Table 1.
The clinical presentation of the affected siblings in this family
| II-1 | II-2 | II-3 | II-4 | II-5 | |
|---|---|---|---|---|---|
| Sex | M | M | F | M | F |
| Gestation age | 36 week, 6 days | 36 weeks | 40 weeks, 4 days | 31 weeks | 39 weeks, 1 day |
| Birth weight, g | 2,600 | 3,290 | 3,450 | 1,790 | 3,350 |
| Respiratory disturbance | Neonatal anoxia, admitted to NICU, after rescue, respiratory and feeding support required | Tachypnea, cyanosis and foaming at the mouth soon after birth, admitted to NICU after rescue, respiratory and feeding support required | Weak crying, poor response, groan and foaming at the mouth soon after birth, admitted to NICU, feeding assistance required during hospital, after discharge, incidental apnea to frequent and aggravated apnea | Tachypnea, cyanosis occurred 50 min after birth, admitted to NICU after rescue, respiratory assistance required | Neonatal anoxia, after rescue, admitted to NICU, respiratory assistance required. |
| Neonatal pneumonia | + | + | + | − | + |
| Feeding difficulty | + | + | + | + | + |
| Hypotonia | + | + | − | + | + |
| Camptodactyly | Bilateral: 2nd–4th finger joint | Left: 3rd–4th finger joint | Left: 3rd–4th finger joint, decreased elbow extension | Left: 3rd–4th finger joint | Left: 3rd–4th finger joint, decreased elbow and knee extension |
| Polydactyly | − | − | − | − | Bilateral polydactyly |
| Hypogonadism | + | + | / | + | / |
| Facial dysmorphism | Robin sequence, low-set ears | Toothed gum, high-arched palate, microretrognathia, frontal bossing, small hands and feet | Micrognathia, high-arched palate, low-set ears | Frontal bossing, low-set ears, high-arched palate, short neck, small hands | |
| Age at death, days | 7 | 15 | 110 | 7 | 8 |
NICU, neonatal intensive care unit.