Report of the favorable pregnancy outcomes in an FKBP10-related Bruck syndrome case and a narrative review of pregnancy in severe osteogenesis imperfecta

Abstract

Background

Osteogenesis imperfecta (OI) is a genetic syndrome that affects skeletal and connective tissues. OI type XI, also known as Bruck syndrome, is an extremely rare autosomal recessive disorder characterized by symptoms of severe OI, along with additional features. Despite the fact that patients with severe OI can survive into adulthood and have preserved fertility, only a few case reports have been published about pregnancy complications in Bruck syndrome.

Case report and narrative review

We report a case of maternal FKBP10-related Bruck syndrome, along with details of antenatal care, delivery strategy, and intrapartum and postpartum care. The patient had been diagnosed with severe OI with lower-limb contractures and deformities since childhood. She conceived spontaneously, received antenatal care, and delivered with favorable outcomes for mother and infant. We then review the cases of pregnant women with severe OI, particularly Bruck syndrome, reported in medical databases. Eighteen reports, describing 20 pregnant women with severe OI, with 21 pregnancies, including ours, were identified and summarized, but these included only one case of maternal Bruck syndrome. In all cases, the fetus was successfully delivered by cesarean section with a high incidence (85%) of preterm delivery and low birthweight (mean: 1,520 g, range: 650 – 2,950).

Conclusion

Pregnancy with maternal Bruck syndrome, as reported here, can achieve favorable obstetric outcomes under vigorous care provided by a multidisciplinary team. Simulation for emergency delivery for many adverse peripartum circumstances might be anticipated and planned for.

Background

Osteogenesis imperfecta (OI) is a group of genetic syndromes characterized by skeletal and connective tissue disorders, with an incidence of approximately 1:30,000 [1]. More than 90% of OI cases are caused by a defect in the formation of collagen, which is encoded by the COL1A1 and COL1A2 genes, resulting in an autosomal dominant bone fragility disease [2]. According to the International Nosology and Classification, OI is classified into various types based on clinical features and molecular findings [3]. Bruck syndrome or OI type XI (OMIM 610908) is one of the autosomal recessive types with an incidence of less than 1:1,000,000 [4], characterized by symptoms of OI along with arthrogryposis [5, 6]. The syndrome was first described in a patient with congenital bone fragility and joint contracture by Alfred Bruck in 1878. The disease is caused by a mutation in the FK506 Binding Protein 10 (FKBP10) gene on chromosome 17q21.2, which consists of 10,538 base pairs and encodes 582 amino acids, a component of proteins located on the endoplasmic reticulum that acts as a collagen chaperone [7].

Classified as the progressive deforming phenotype, OI type XI constitutes the severe non-lethal expression form. This condition involves a severe disability due to the presence of markedly soft and brittle long bones. Characteristic skeletal findings include extreme bowing (70°-90°), induced by either intrinsic muscular forces or the angled healing of fractures resulting from minimal trauma. While the life expectancy of such patients may be normal, they often develop significant kyphoscoliosis and chest wall abnormalities during childhood, which precipitate chronic respiratory morbidity. Consequently, most patients are wheelchair-bound, even with aggressive medical management.

Pregnancies in which the mother has OI exhibit a greater incidence of adverse outcomes for both the mother and the neonate. As a result of improvements in pediatric healthcare for OI-affected individuals, including those with severe symptoms, patients’ lifespans now extend beyond childhood. In fact, individuals with severe OI now typically demonstrate preserved fertility and high rates of survival into adulthood. Although some studies about the pregnancies of women with OI have been reported [8, 9], they included a few individuals with severe phenotypes. Here, we report a case of maternal FKBP10-related Bruck syndrome, representing severe features of OI who delivered with favorable obstetric outcomes, and then we review pregnancies of mother with severe OI narratively.

Case report

Regarding the mother’s history in this case, she was born at term, weighing 2700 g, by normal delivery, without any abnormal features identified during the perinatal period. She had a history of frequent bone fractures upon low-impact trauma, resulting in limb deformities without joint contractures by the age of 3. Her older sister also had a history of frequent bone fractures, resulting in severe dysmorphic features. To prevent fractures and deformity, the patient received bisphosphonate at the age of 12 and underwent a prophylactic internal fixation of the spine at the age of 17. By the age of 19, her movement had been greatly restricted, and she was wheelchair bound. She has short stature (height 100 cm), low weight (23.5 kg), severe kyphoscoliosis, limb-bending deformities, and gray-to-blue sclerae, but normal hearing. An IQ test was also performed and revealed normal intelligence. X-ray films (Fig. 1) indicated severe skeletal deformities. Owing to her severe kyphoscoliosis, a pulmonary function test was performed, confirming the diagnosis of severe extraparenchymal restrictive lung disease (RLD) (FEV1/FVC = 87%, FVC = 20%, TLC = 28%).

Fig. 1.

Whole spine anteroposterior film demonstrated the severe kyphoscoliosis and abnormal pelvic bone alignment

The patient has three siblings (see Fig. 2 for the pedigree) and is the child of a non-consanguineous couple. No history of bone disease, bone fragility symptoms, or other dysmorphic features was reported in her family members, except for her older sister. Multi-gene panel testing for skeletal disorders identified compound heterozygous pathogenic variants in the FKBP10 gene (NM_021939.3), consisting of c.21dupC (dbSNP: rs782271121) in exon 1 and c.343 C > T (dbSNP: rs370972136) in exon 2 in the patient and her older sister. These sequence changes create premature translational stop signals, p.Ser8Glnfs*67 and p.Arg115*, respectively, and are expected to result in an absent or disrupted protein product. Loss-of-function variants in FKBP10 are known to be pathogenic and have been identified in individuals with OI [10, 11]. Peripheral blood samples were obtained from other family members who were willing to participate in the study for the screening of both FKBP10 pathogenic variants. Specifically, we were able to recruit the patient’s mother (I-1) and brother (II-2) to ascertain the inheritance of the variants. The heterozygous c.343 C > T variant was identified in the asymptomatic mother, while the heterozygous c.21dup was detected in the asymptomatic brother, as shown in Fig. 3. Thus, we assumed that the c.21dup variant had been paternally inherited.

Fig. 2.

Family pedigree

Fig. 3.

Family segregation analysis of patient and her family members

The patient was married and had been attempting to become pregnant, conceiving spontaneously at 29 years old. As per the patient’s preferences and autonomy, antenatal care was initiated at 15 weeks of gestation, with rigorous multidisciplinary monitoring to help ensure the pregnancy’s well-being, prevent further maternal fractures, maintain maternal respiratory function, and plan for delivery. The results of laboratory investigations during her antenatal care were unremarkable, except for the hemoglobin E trait without anemia. Her husband’s blood test revealed normal hemoglobin typing. Pulmonary function test had shown extraparenchymal severe RLD since before pregnancy; however, antenatal echocardiography showed good left ventricular ejection function and was negative for pulmonary hypertension. She also declined fetal aneuploidy screening because she had no plan to terminate the pregnancy, regardless of the result. The fetal anatomic survey was unremarkable, with all the long bones and the musculoskeletal system being identified. The patient was hospitalized at 29 weeks of gestation for intensive maternal and fetal monitoring according to the multidisciplinary team’s suggestion. Patient transfer, patient positioning in the operating room, and the layout of medical personnel and instruments involved in the delivery were rehearsed via simulations to prepare for an emergency cesarean section (CS).

During admission, arterial blood gases were monitored twice a week. Although clinicians often accept a permissive hypercapnia strategy in cases of chronic RLD, there was no evidence of complications associated with permissive hypercapnia in the fetus in utero. To balance the risk of hypercapnia and lung injury, the multidisciplinary team decided to maintain an upper borderline normocapnia level (PaCo₂ < 45 mmHg and SpO₂ ≥ 95%), focusing on managing symptoms and preventing acute respiratory failure through non-invasive ventilation at night to reduce CO₂ buildup. Non-invasive ventilation was planned for daytime use in the case of a progressive increase in CO2 levels. After the fetus was detected to be constitutionally small for gestational age, weekly non-stress tests and ultrasounds for amniotic fluid and umbilical artery Doppler studies were performed to ensure fetal well-being. Fetal growth was monitored every 2 weeks, and the ultrasound results showed an increase in fetal growth around the 10th percentile, normal amniotic fluid volume, and positive end-diastolic flow in the umbilical artery.

Eventually, preterm labor was noted at 32 weeks of gestation, resulting in an urgent CS as planned. Because of the successful general anesthesia in the previous spine surgery of the patient, the anesthesiologists gave her a similar general anesthesia after specialized operative positioning by orthopedic surgeons. To prevent inadvertent intraoperative fractures, we avoided leaning on the patient’s body, placing any surgical instruments on it, and cushioning the patient’s pressure points as appropriate (Fig. 4). The obstetricians performed a low vertical uterine incision (below insertion of the round ligaments) after exteriorization of the gravid uterus through the midline skin incision above the maternal umbilicus because of the inability to explore the lower pelvic region (Fig. 5). The obstetrician held the baby without placing her on the mother while performing delayed cord clamping. The intraoperative estimated blood loss was 300 mL, with no other complications. The preterm female newborn, weighing 1,470 g and with APGAR scores of 2, 5, and 9, was delivered uneventfully and discharged in a healthy status after 28 days of hospitalization. Maternal postoperative care was routinely provided, particularly in areas such as respiratory care and pain management. The patient was discharged on postoperative day 4 after admission for 76 days in total and was discouraged from breastfeeding due to the individual risk of maternal osteopenia or ongoing fractures. Assessment of the maternal health is going well and has returned to her prepregnant status without any postpartum fractures; however, devastating postpartum osteoporosis was present (BMD spine and femoral neck, Z score: -4.5). The growth and development of her child were appropriate for her age at the 9-month follow-up.

Fig. 4.

Patient’s positioning on the operative table. a The patient’s positioning was created and cushioned by customized pads. b The lower abdomen and pelvis could not be exposed. c 3 customized pads were customized for the specific pressure area

Fig. 5.

Surgical technique for cesarean section. a Midline vertical skin incision above the umbilicus. b Exteriorization of the gravid uterus. c low vertical uterine incision. d Hysterotomy closure

Narrative review

A search of the scientific databases PubMed, Web of Science, and the National Center for Biotechnology Information was conducted to identify articles and reported cases of pregnancy in severe OI patients, including those with Bruck syndrome, from December 1965 to November 2025. The authors used the following combinations of keywords to identify original papers: “pregnancy or pregnant” AND “severe OI” OR “progressively deforming OI” OR “wheelchair-bound OI”. Whether the paper met the following criteria for inclusion in this narrative review was determined by two of the authors: a report or article describing a pregnant woman with severe features of OI, including multiple fractures, kyphoscoliosis, or wheelchair use. Only relevant, non-duplicated, English-language articles were reviewed. Eighteen reports, featuring 21 pregnancies of 20 pregnant women with severe OI, including ours, were identified, the details of which are summarized in Table 1. Only one previous case (case 18) had been genetically confirmed as Bruck syndrome (related to a homozygous FKBP10 gene mutation) during her early third trimester [12]. The others involved severe features of OI presenting with multiple fractures and very short stature, severe kyphoscoliosis, significant lower limb deformity, or wheelchair dependence. Here, we present a detailed analysis of the important information on these cases.

Table 1.

Detailed summary of the cases of pregnancy in severe osteogenesis imperfecta

First author (year)		Preconceptional clinical features						Antenatal period				Delivery details				Neonate outcomes
	N	Age of OI Diagnosed	Fracture	Scoliosis	Kyphosis	History of orthopedic surgery	Wheel-chair	Age at pregnancy (year)	Height (cm)	Weight (kg)	Respiratory problems	Week of delivery (wk)	Route of delivery: Reasons	Anes	EBL (mL)	Birthweight (g)	Affected OI
Evans HD, et al. (1966) [13]	1	3 weeks of age	Multiple	Yes	Yes	-	Yes	23	69	21	-	34	Classical CS: N/A	GA	330 (1 WB)	1673	No
Phillips OP, et al. (1991) [14]	2	At birth	Multiple	Severe	-	Yes	Yes	21	106	-	-	34	Low transverse CS: Compromised pulmonary status	GA	-	1685	Yes
Vogel TM, et al. (2002) [15]	3	-	Multiple	Severe	Severe	-	Yes	30	91	-	Significant RLD	24 (TOP)	CS: Severely contracted pelvis	EA	-	-	- (Trisomy 18)
	4	-	Multiple	Severe	Severe	-	-	35	85	-	Progressive respiratory distress	32	CS: Twin pregnancy, marked lower limb deformities	GA	-	-	-
Parasuraman R, et al. (2007) [16]	5	First week	Multiple	Severe	Severe	-	Yes	20	-	-	No	33	CS: Minimize cardiopulmonary compromise from the gravid uterus	-	-	1708	Yes
Murray S, et al. (2010) [17]	6	infancy	Multiple	Severe	-	Yes	Yes	24	91	25	No	35	CS: Minimize cardiopulmonary impact from the gravid uterus	CSEA	-	2418	-
Fiegel MJ, et al. (2011) [18]	7	-	Multiple	Severe	Severe	Yes	-	27	130	36	-	31	CS: Cephalopelvic disproportion	GA	1500 (2 PRC) (1 FFP)	-	-
Feng ZY, et al. (2012) [19]	8	-	Multiple	Severe	Severe	-	Yes	31	89	25.5	No	27	CS: Extremely contracted pelvis and minimize cardiopulmonary compromise	-	-	650	Yes
Dinges E, et al. (2015) [20]	9	At birth	Over 100	Yes	Yes	Yes	-	-	111	36	Worsening RLD, on BiPAP	32	CS: Worsening respiratory difficulty	GA	600 (1 PRC)	1979	No
	10	At birth	Multiple	Mild	-	-	-	-	92	42	Worsening dyspnea on nocturnal BiPAP	28	CS: Non-reassuring fetal heart tracing	CSEA	300	1077	No
Kawakita T, et al. (2018) [21]	11	-	Multiple	Severe	Severe	-	Yes	G1 23	96	25	Worsening severe RLD, on BiPAP	28	Classical CS: Risk of potential respiratory collapse	EA	750 (1 PRC)	970	No
	12							G2 26	81	27.2	Worsening RLD, on BiPAP	27	Classical CS: Previous CS	SA (Failed EA)	700 (1 PRC)	730	No
Sutton CD, et al. (2019) [22]	13	-	Multiple	Severe	-	Yes	-	34	112	49	Progressive shortness of breathing	34	CS: Progressive respiratory compromise	GA (with LMA)	-	-	-
Chamunyonga F, et al. (2019) [23]	14	Neonate	Multiple	No	No	-	Yes	34	120	-	No	37	Low transverse CS: Elective	GA	500	2100	Yes
Huner B, et al. (2020) [24]	15	-	Multiple	Yes	Yes	Yes	Yes	22	-	-	Dry cough (Normal PFT)	30	Classical CS: Lower Extremities immobilization	GA	600	1350	Yes
Lee KW, et al. (2023) [25]	16	At birth	Multiple	Severe	Severe	No	Yes	-	87	20	Severe RLD, On nocturnal BiPAP	26	Classical CS: N/A (twin pregnancy)	GA	800 (2 PRC)	720 735	No No
Jiang C, et al. (2024) [26]	17	5 years of age	Multiple	Yes	-	Yes	-	30	-	-	-	37	CS: N/A	GA	-	2950	-
Monohar S, et al. (2024) [12]	18	Childhood	Multiple	Severe	-	Yes	Yes	20s	130	30	Restrictive pattern in PFT	36	High transverse CS: Significantly lower limb contractures	GA	500 (1 PRC)	2110	-
Yu R, et al. (2024) [41]	19	-	Multiple	Severe	-	-	Yes	30	85	43	No	34	CS: cephalopelvic disproportion	EA	-	-	-
Partani E, at al. (2024) [27]	20	-	Multiple	Severe	-	Yes	-	36	119	33.1	Mildly decrease lung capacity	38	CS: N/A	GA (Failed SA)	400	-	No
Sriudomporn K, et al. (Current case)	21	Childhood	Multiple	Severe	Severe	Yes	Yes	29	100	23.5	Severe RLD, On BiPAP	32	Low vertical CS: Significantly lower body deformities	GA	300	1470	No

No available data (-)

Anes Anesthesia technique, BiPAP Bilevel positive airway pressure, CS Cesarean section, CSEA Combined spinal-epidural anesthesia, EA Epidural anesthesia, EBL Estimated blood loss, G Gravida, GA General anesthesia, LMA Laryngeal mask airway, N Number of pregnancies, NA Not available reasons, OI Osteogenesis imperfecta, PFT Pulmonary function test, PRC Packed red cell unit, RLD Restrictive lung disease, SA Spinal anesthesia, TOP Termination of pregnancy, WB Whole blood unit

Preconceptional period

The age at diagnosis was recorded for 11 of the 20 (55%) individuals with severe OI as follows: 4 cases diagnosed at birth, 3 cases in the neonatal period, and 2 cases in infancy and childhood. All of them experienced multiple fractures requiring orthopedic surgery, but one case had no history of any orthopedic surgery (Case 16) due to her preference for conservative treatment. Scoliosis was absent in only 1 of the 20 (5%) severe OI cases, while the scoliosis was severe in 14 of the other 19 (74%) patients. All 11 cases with kyphosis also had scoliosis, and one non-kyphotic case did not (Case 14). Data on wheelchair use status were reported for 13 wheelchair users in this series.

Antenatal period

Among the articles that detailed the clinical features of pregnant women with severe OI, the mean age at pregnancy was 28 years (range: 20 − 36), the mean maternal height was 100 cm (range: 69 − 130), and the mean maternal weight was 31 kg (range: 20 − 49). RLD was diagnosed in 11 of 17 (65%) pregnancies for which the antepartum pulmonary function test result was reported, with RLD requiring bilevel positive airway pressure in six pregnancies. Although no respiratory problems were reported in three cases, a planned CS was performed to minimize the impact of the gravid uterus on the cardiopulmonary status. No maternal fractures occurred in the antenatal period in any of the 21 pregnancies.

Intrapartum care and delivery strategy

The mean gestational age at delivery was around 32 weeks (range: 26–38), after excluding a previable termination of pregnancy (Case 3) because of fetal trisomy 18, but preterm labor requiring urgent delivery occurred in 4 of 17 (24%) cases. Only 3 of 20 (15%) pregnancies reached term. All were delivered by CS for two main reasons: to compromise maternal cardiopulmonary function and to avoid fetopelvic disproportion, with a difference in the uterine incision type. General anesthesia was administered for the CS in 13 of 19 (68%) cases; however, epidural, spinal, or combined spinal-epidural anesthesia was successful in selected individuals. The average estimated blood loss (EBL) was 607 mL (range: 300–1,500) from 12 pregnancies for which data were reported. Owing to the small build of the mothers, a few units of packed red blood cells and products were administered in seven pregnancies (58%), despite a mean EBL of 740 mL (range: 500–800 mL) in this group. Uterine atony was encountered in two cases, but no cases of bleeding diathesis were mentioned. Moreover, there were no reports of peripartum fractures among the 21 individuals with severe OI.

Neonatal outcomes

Because 17 of 20 (85%) pregnancies were delivered preterm, the mean birthweight was low, at 1,520 g (range: 650–2,950). The neonate was also clinically diagnosed or suspected of having OI in 5 of 14 cases (36%) for which data were available.

Discussion

OI type XI or Bruck syndrome is an extremely rare autosomal recessive, severe form of OI that is attributed to mutations in the FKBP10 gene. Although recessive forms of OI account for less than 10% of the total cases, the number of variants identified in causative genes has been increasing as sequencing techniques have become more widely used. We report a case of OI type XI in an adult Thai patient, characterized by clinical and radiological features, as well as molecular genetic results. The causative mutations included known pathogenic compound heterozygous variants in the FKBP10 gene. This patient presented with childhood-onset recurrent fractures despite only minor trauma, progressive characteristic bone deformities, and growth deficiency. To date, 245 unique variants have been identified in the FKBP10 gene. In our patient, the known pathogenic compound heterozygous mutations, c.21dupC in exon 1 and c.343 C > T in exon 2, were identified. The homozygous phenotype of this duplication variant has previously been described in a 3.5-year-old Egyptian female patient [10] presenting with clinically severe OI and characteristic facial dysmorphologies. Meanwhile, the nonsense variant was mentioned in a recent Chinese study [11], in which the patient was a 20-year-old female with compound heterozygous mutations of c.343 C > T and c.1085delC (p.A362fsX1) with clinical OI type IV and presented with a brittle fracture at 52 days of age and nearly 60 fractures under minor trauma in her extremities.

Published information on pregnancy complications and birth outcomes in OI remains limited and is particularly restricted because only a few individuals (2–8 cases) with severe phenotypic features were included in the studies [8, 9, 28]. To the best of our knowledge, this is the second confirmed case of pregnancy in a woman with Bruck syndrome resulting in favorable perinatal outcomes. This also appears to be the first narrative review of pregnancy outcomes in a patient with severe OI. The main concerns during the antenatal period are insufficiency in maternal pulmonary function due to severe RLD and an increased risk of pulmonary hypertension, which can lead to significant maternal morbidity and even mortality [29], similar to the reported findings in other severe OI cases [30, 31]. As such, pulmonologists and cardiologists play an important role in monitoring patients by serially assessing lung function test results, blood gases, and echocardiograms.

Specialized antenatal care was tailored holistically for each individual. Prenatal vitamins and trace elements were required, particularly adequate iron supplementation to prevent maternal anemia, additional calcium supplementation to maintain calcium balance, and vitamin D, which is essential for absorbing calcium. Fetal aneuploidy screening, fetal anatomical surveys, and fetal growth assessments should be performed as a standard of care. Despite the extremely low probability of the fetus inheriting Bruck syndrome because of a recessive inheritance pattern and rare carrier frequency, prenatal screening by ultrasound to examine the fetal long bones of the fetus is mandatory [32, 33]. An invasive prenatal diagnosis for genetic testing is possible in the case of an abnormal fetal musculoskeletal deformity, such as symmetrical micromelia, long bone fracture, or joint contracture [34, 35]. No evidence supports the assertion that hospitalization prior to labor can improve perinatal outcomes in pregnant women with severe OI [36], particularly among those with Bruck syndrome; however, many benefits might accrue when such patients are admitted, such as convenience in treating the normally wheelchair-bound patient and the ability to perform simulations to determine the best way to transfer the patient.

For the best perinatal outcomes, intrapartum care typically requires a vigorous and enthusiastic multidisciplinary team that can promptly intervene in a well-resourced setting. Most pregnant women with severe OI are scheduled for CS [37]. CS is mainly adopted to avoid cardiopulmonary compromise because of the impact of the gravid uterus on decreased thoracic volume, which might exacerbate the RLD, and to prevent fetopelvic disproportion as a result of the severe pelvic and lower-limb deformities [38]. However, preterm labor is the main obstetric risk that can be anticipated. Targeting a late preterm delivery after 34 weeks of gestation should be objected. General anesthesia was preferred for CS in these patients; however, the challenges included difficulties in assessing the airway and maintaining ventilation. It is imperative to minimize neck and jaw manipulation to reduce the risk of atlanto-occipital and atlanto-axial fractures. Spinal anesthesia, epidural anesthesia, and combined spinal-epidural anesthesia were also reported to be successful for CS in these severe OI cases.

Given severe contractures of the lower limbs and kyphoscoliosis, exploring the pelvic region for a low transverse CS is challenging. A classical CS is necessary in many cases of severe OI, but this increases the risk of hemorrhage in current and subsequent pregnancies [39]. In the only confirmed case of maternal Bruck syndrome [12], it was reported that the fetus was delivered via a high transverse uterine incision, causing procedural hemorrhage and resulting in a blood transfusion. In contrast to our case, we performed a low vertical uterine incision at the anterior wall of the exteriorized gravid uterus, which was more easily closed because of the thinner myometrium. Meanwhile, a low transverse CS was successfully performed in a patient with mild lower-limb deformity, in whom an approach to the lower uterine segment could be employed.

Koumakis et al. reported that 6 of 50 women (12%) with mild OI experienced an antepartum fracture [40]. This group contrasts with all of our severe patients, who had limited mobility and were wheelchair-bound, decreasing the risk of fracture. To prevent an inadvertent perioperative maternal fracture, despite no intrapartum evidence of maternal fracture [9, 40], the authors emphasize the importance of performing simulations of the various situations that can arise from the patient’s transfer through to delivery. We suggested that the patient transfer herself from the transfer bed to the operating table while she is awake; if not, a slide board should be used to assist her transfer. Operative positioning depends on the patient’s posture, and pressure points should be appropriately cushioned with customized pillows.

Despite limited information on the management of lactating women with OI, the patient reported here was advised to avoid breastfeeding because lactation is a physiological process that affects bone metabolism and mineralization. During lactation, there is a marked increase in maternal calcium mobilization, resulting in a significant loss of bone density of 5%-10% [41]. This report and review gather cases previously managed and treated up to the present; however, for evidence-based management, a clinical trial with an appropriate sample size in pregnant individuals with severe OI is anticipated.

Conclusion

Selected pregnancies in which the mother has severe OI, particularly in cases of Bruck syndrome, can proceed to a favorable pregnancy outcome under vigorous care provided by a multidisciplinary team. Although there are currently only limited data on specialized antenatal care, delivery strategy, and postpartum management, simulations for emergency delivery in many adverse peripartum situations could be anticipated and planned for.

Abbreviations

BMD

Bone mineral density

CS

Cesarean section

EBL

Estimated blood loss

OI

Osteogenesis imperfecta

RLD

Restrictive lung disease

Authors’ contributions

All authors made significant contributions to this article. K.S. initiates the conceptualization of the hypothesis, research operations, including research design, experimentation, laboratory testing, genomic data collection, analysis, and interpretation, as well as discussion of the results and contribution to manuscript preparation. A.T. and T.S. support for specimens, logistics, equipment, laboratory, and supportive durable material. C.T. and W.L. collected data and reviewed the relevant literature. S.D. managed patient care, discussed and compared the present case with the prior literature, and prepared and critically reviewed the manuscript.

Funding

Open access funding provided by Mahidol University. Open-access publication was provided by the Faculty of Medicine Ramathibodi Hospital, Mahidol University.

Data availability

The datasets generated and/or analyzed during the current study are available in the NCBI repository; accession numbers: ClinVar Variantion ID: 1298701 and 1457012. The other datasets generated and/or presented in this case report and narrative review are included in this published article and are available from the corresponding author on reasonable request.

Declarations

Ethics approval and consent to participate

This case report and literature review were approved by the Human Research Ethics Committee, Faculty of Medicine Ramathibodi Hospital, Mahidol University (COA No. MURA 2025/818) and fully complied with international guidelines for human research. The informed consent was written manually for the presenting case.

Consent for publication

Written informed consent was obtained from the patient to publish this case report and the image shown.

Competing interests

The authors declare no competing interests.