Table 1.
Clinical features of the probands and their affected siblings
| Family | Age & sex | Diagnosis | DD | Additional information |
|---|---|---|---|---|
| 1 | † 2d F | ATD | na | Respiratory insufficiency at birth, sibling [1b] with ATD († 8d M) |
| 2 | TOP M | ATD | na | GA 19, syndactyly of the hands |
| 3 | TOP M | SRPS3 | na | GA 22, NPHP, hydrops, scoliosis, lumbar lordosis, ambiguous genitalia, oligohydramnios, joint contractures, low set posteriorly rotated ears, hypertelorism, depressed nasal bridge, midface hypoplasia |
| 4 | 2 y M | ATD | − | Respiratory insufficiency at birth |
| 5 | 6 y M | ATD | − | |
| 6 | TOP M | ATD | na | GA 28 |
| 7 | TOP F | ATD | na | GA 19 + 3, Coxa vara |
| 8 | TOP M | SRPS3 | na | GA 18, syndactyly, ambiguous genitalia, microcystic kidney, hypoplasia of urinary bladder, frontal bossing, cleft palate |
| 9 | TOP F | SRPS3 | na | GA 21, pancreatic cysts, NPHP, low set posteriorly rotated ears |
| 10 | TOP M | ATD | na | GA 19 |
| 11 | 3 y M | ATD | na | Flat nasal bridge, small teeth, oligohydramnios |
| 12 | 3 y M | ATD | – | Respiratory insufficiency at birth, sibling [12b] with ATD († 7d M) |
| 13 | TOP M | SRPS3 | na | GA 20 + 6, hypoplasia of corpus callosum, ambiguous genitalia, malrotation of bowel, retrognathia, small tongue, low set ears |
| 14 | † 2 d M | ATD + JBTS | na | MTS, sibling [14b] with ATD and JBTS († 4 m F) |
| 15 | † 2 m M | ATD + JBTS | na | Premature birth (GA 33 + 4), MTS, IUGR, ventriculomegaly, sibling [15b] with ATD + JBTS (TOP) |
| 16 | 2 y M | ATD | − | no MTS was shown on MRI, enlarged anterior ventricles |
| 17 | 7 y M | ATD | + | Retrognathia, renal insufficiency, developmental delay |
| 18 | 18 y M | ATD | − | NPHP (Kidney transplant at 12 y) |
| 19 | † 2 y F | ATD | − | NPHP, dolichocephaly, speech delay |
| 20 | † 7 d M | ATD | − | Respiratory insufficiency at birth |
| 21 | † 10 m F | CED | + | Macrocephaly, dolichocephaly, sparse hair, NPHP, cystic liver (Caroli disease), previously reported [19] |
| 22 | TOP M | EVC | na | GA 21, rocker bottom feet, simian creases, syndactyly of left foot, micrognathia, low set ears, up-slanting palpebral fissures |
| 23 | 17 y 3 m M | EVC | mild | Short stature, structural heart abnormality |
| 24 | 4 y 4 m M | EVC | − | Sparse hair, deviating thumbs, nail hypoplasia, speech delay, structural heart abnormality, hypoplastic teeth, retrognathia |
| 25 | † 1d M | unclassifiable | na | Premature birth (GA 31), respiratory insufficiency at birth |
| 26 | 5 y M | unclassifiable | mild | Brachycephaly, sparse hair, crowded teeth |
| 27 | † 1 d M | ATD | na | Respiratory insufficiency at birth |
| 28 | 3 m F | ATD | na | Premature birth (GA 35) |
| 29 | † 1 d M | CED | na | Respiratory insufficiency at birth, hypertelorism, midface hypoplasia, micrognathia, sibling [29b] with CED (2y4m F) |
†, deceased; +, present; –, absent
ATD asphyxiating thoracic dystrophy, CED Cranioectodermal dysplasia, d days, DD Developmental delay, EVC Ellis-van Creveld syndrome, F female, GA gestational age (weeks + days), IUGR intrauterine growth restriction, JBTS Joubert syndrome, m months, M male, MTS molar tooth sign, na not available, NPHP nephronophthisis, TOP termination of pregnancy, SRPS3 short-rib polydactyly syndrome type 3, w weeks, y years