Table 1.
Associated Clinical Manifestations of Moebius Syndrome Observed Between 1980 to 2022.
| Study | Age/Gender | Cranial Nerves Involved | Clinical Manifestation | Associated Findings |
|---|---|---|---|---|
| CARDIOVASCULAR PATHOLOGY | ||||
| Thapa et al. (2009) 18 | 2y/M | VI, VII | Atrial-Septal Defect (ASD) | Ejection systolic murmur of Grade III/VI, fixed split-second heart sound, and 6 mm ostium secundum defect seen on CT scan |
| Bosch-Banyeras et al. (1984) 19 | ab/M | VI, VII, IX, X | Dextrocardia in PS-MBS | No murmurs detected, Isolated dextrocardia on ECG & echocardiogram |
| ENDOCRINE PATHOLOGY | ||||
| Hashimoto et al. (1993) 20 | 17y/M | II, VI, VII, VIII | Pituitary dwarfism and Hypoplastic Optic Disc | Highly retarded bone growth, absence of pubertal growth spurt, infantile external genitalia, small-sized thyroid and pituitary glands, low testosterone, low GH provocation test results, and LHrH tests in the prepubertal range. Persistent pupillary membrane and coloboma of the left optic nerve, abnormal left pupil shape, severe left ear deafness, and mild hearing right ear impairment |
| Kawai et al. (1990) 21 | 15y6 m/M | II, III, VI, VII | Hypogonadotropic hypogonadism and peripheral neuropathy | Failure of the adolescent growth spurt, secondary sexual characteristics absent, hypogonadism, Low levels of LH, FSH, and testosterone. Lower motor neuron lesion, subnormal motor neuron conduction velocity in lower limbs, mild subsarcolemmal aggregation of mitochondria. |
| Ichiyama (1995) 22 | 19 m/F | III, VI, VII | Premature thelarche | Thelarche at ten months and FSH predominant response to LHrH |
| OTHER | ||||
| Tanaka et al. (2022) 23 | ab/F | VI, VII | Neurogenic bladder | At birth - urinary retention since birth, recurring urinary tract infection. Two months of age - bladder wall irregularity, hydronephrosis, and bilateral grade 5 vesicoureteral reflux. At two years of age - detrusor overactivity and detrusor-sphincter dyssynergia. |
| John et al. (2013) 24 | 15 m/M | VI, VII, VIII | Dandy-Walker variant and complete agenesis of the corpus callosum. | Corpus callosum agenesis with inferior vermian hypoplasia with the prominent fourth ventricle. |
| Buccoliero et al. (2011) 25 | 1y/M | VII | Splenogonadal fusion and intestinal intussusception. | Abdominal distension, vomiting, bloody stools, ileo-ileal intussusception, cryptorchidism. |
| Freire et al. (2019) 26 | ab/F | VI, VII | Ankyloglossia Superior syndrome. | Tongue hypomobility, restricted mouth opening (<10 mm), loss of continuity of the palatal shelf, and absence of oral–nasal communication. |
| Viteri et al. (2021) 27 | 2y/M | VI, VII, IX | Splenogonadal fusion associated with Poland syndrome. | Splenogonadal fusion, visible mass in the left inguinal region. |
| Preis et al. (1996) 28 | 3y/F | VI, VII | Goldenhar anomaly with MBS and Poland syndrome, hypoglossal, and hypodactyly anomalies. | Bilateral anotia, epidermoid, submucous cleft palate, spina bifida occulta at L5, ventricular septal defect, shortened tongue tip, hypodactyly, hypodactyly of the left hand with absent distal phalanges and an epidermal cyst on right conjunctiva. |
| Chen et al. (2021) 17 | 21y/M | VII, VIII | Early eruption of deciduous teeth. | The patient had an early eruption of his deciduous teeth at the age of 2 months. He also had other orthodontic manifestations, including crowded dentition, swollen and hyperplastic gingiva, dental calculus of degree I, impacted teeth, dental caries, and a high-arched palate. |
Abbreviations: ab, at birth; d, days; m, months; y, years; M, male; F, female.