Gender:
Female = 24
Male =18
Development:
Respiratory distress = 79% (31/39)
Feeding difficulties = 79% (30/38)
Learning disability = 77% (14/18)
Head and Neck anomalies:
Microstomia = 90% (38/42)
Micrognathia = 100% (42/42)
Cleft palate/Robin sequence 65% (27/41)
Cleft mandible 70% (28/40)
Central incisor absence = 69% (23/33)
Minor ears anomalies = 94% (37/39)
Absence or Hypoplasia of epiglottis/supraglottic =100% (29/29)
Limb anomalies:
Hypoplasia of the thumbs 97% (39/40)
Hypoplasia of the thenar/hypothenar 74% (23/31)
Hypoplastic Fifth finger 73% (27/37)
Clinodactyly of fifth finger= 73% (24/33)
Clubfeet = 90% (38/42)
Hypoplastic halluces 89% (34/38)
Mesomelia of lower limbs = 77% (30/39)
Radiological findings:
Abnormal fusion/cleft mandible = 75% (18/24)
First ray hypoplasia = 86% (30/35)
Fifth ray hypoplasia = 73% (25/34)
Shortness/abnormal tibia = 85% (30/35)
Shortness/abnormal fibula = 81% (26/32)
Hypoplastic and/or dysplastic calcaneous = 73% (22/30)
Others:
Developmental delay
Medial fissure of lower lip
Thoracic deformity
Lumbar lordosis
Scoliosis
4–5th metacarpal synostosis
EIF4A3