Table 1.
Medical history and phenotypic details of patients
| Code | GA (weeks) | BW (g) | BW (SD) | EMS | Pregnancy | Dysmorphic features | Consanguinity | Family history |
|---|---|---|---|---|---|---|---|---|
| 1 | 32 | 900 | −3.15 | 2/12 | CS | IUGR | No | Unremarkable |
| 2 | 41 | 3.260 | −1.12 | 3/12 | Normal | Large ears | No | Unremarkable |
| Broad nose | ||||||||
| Mild frontal bossing | ||||||||
| 3 | 40 | 4.150 | 1.12 | 2,5/12 | Normal | / | No | Maternal aunt: difficulties to get pregnant, one child with congenital abnormalities |
| 4 | 41 | 3.060 | −1.6 | 3/12 | Normal | / | No | Unremarkable |
| Minoxidil treatment | ||||||||
| 5 | 34 | 1.320 | −2.93 | 7,5/12 | CS | IUGR | No | Unremarkable |
| 6 | 40 | 3.380 | −0.59 | 9/12 | Normal | / | No | Grandfather with hypospadias, maternal aunt with POF |
| 7 | 30 | 510 | −3.8 | 6/12 | Induced delivery | IUGR | No | Paternal grandmother: cleft lip |
| Twins | ||||||||
| 8 | 39 | 3.690 | 0.45 | 10/12 | IVF | / | No | Unremarkable |
| 9 | 38 | 3.310 | 0.01 | 8/12 | Normal | / | No | Unremarkable |
| 10 | 39 | 2.850 | −1.53 | 9/12 | Placental infarction | Microcephaly | No | Unremarkable |
| Mild facial dysmorphism | ||||||||
| 11 | 40 | 3.000 | −1.51 | 3/12 | Normal | Macrocephaly | No | Unremarkable |
| Facial dysmorphism | ||||||||
| Short neck | ||||||||
| Developmental delay (speech) | ||||||||
| 12 | 40 | 3.850 | 0.47 | 6/12 | Normal | / | Yes | Mother: fertility problems, irregular menses |
| 13 | 35 | 2.530 | −0.26 | 6/12 | Preeclampsia and hypertension | / | No | Unremarkable |
| Obesity | ||||||||
| Twins | ||||||||
| Sectio | ||||||||
| 14 | 32 | 945 | −2.98 | 3/12 | Bleeding | / | No | Unremarkable |
| CS | ||||||||
| 15 | 40 | NA | NA | 3/12 | Normal | / | No | Unremarkable |
| 16 | 28 | 860 | −1.26 | 7/12 | Eclampsy | Atrial septum defect | No | Unremarkable |
| Prematurity | ||||||||
| 17 | 34 | 1.450 | −2.52 | 6/12 | CS | Ventricular septum defect | Yes | Cousin (deceased)with Jeune syndrome |
| 18 | 34 | 1.400 | −2.68 | 2/12 | CS | / | No | Unremarkable |
| Antidepressant Paroxetine | ||||||||
| 19 | 41 | 2.805 | −2.24 | 3/12 | Normal | / | No | Unremarkable |
| 20 | 39 | 2.880 | −1.45 | 6/12 | Normal | / | Possible | Unremarkable |
| 21 | 36 | 1.585 | −3.39 | 7/12 | Preeclampsia | / | No | Unremarkable |
| 22 | 39 | 2.640 | −2.07 | 6/12 | Normal | / | No | Unremarkable |
| 23 | 40 | 3.250 | −0.9 | 8/12 | Normal | / | No | Unremarkable |
| 24 | 37 | 3.290 | −0.43 | 6/12 | Normal | / | Yes | Unremarkable |
| 25 | 38 | 2.800 | −1.20 | 6/12 | Preeclampsia | / | No | Mother: brother deceased from SIDS |
| Maternal grandfather: depression | ||||||||
| Maternal grandmother: recurrent miscarriage | ||||||||
| Father: late puberty | ||||||||
| Paternal uncle: retractile testes, normal fertility | ||||||||
| 26 | 39 | 3.770 | −0.63 | 12/12 | Preterm contractions | Hypoplastic bulbus olfactorius | / | Unremarkable |
| 27 | 26 | 700 | −1.26 | 10/12 | IVF | Persisting | / | Unremarkable |
| Twins | ||||||||
| Placental rupture | Periventricular leukcomalacy | |||||||
| 28 | 36 | 2.570 | −0.72 | 8/12 | Previous abortions | X-linked ichthyosis | / | First child was stillborn |
| Preterm contractions | Hypotonia | Three miscarriages between month 1 and 2 | ||||||
| Developmental delay ductus arteriosus | ||||||||
| Bleeding | Abnormal liver function tests | |||||||
| 29 | 39 | 3.230 | −0,6 | 9/12 | Pregnancy after gonadotrophin treatment father | / | / | Father with Kallmann syndrome, pregnancy after gonadotrophins |
| 30 | 38 | 3.782 | 1.04 | 8/12 | Normal | Mowat-Wilson syndrome | / | Unremarkable |
| 32 | 39 | 2780 | −1.70 | 7/12 | Normal | No | No | Unremarkable |
GA: gestational age, BW: birth weight, EMS: external masculinization score, IUGR: intra uterine growth retardation, POF: premature ovarian failure, SIDS: sudden infant death syndrome; CS: Caesarian section, IVF: in vitro fertilization.