Three children, two siblings and one single
child, showed neonatal respiratory distress, presumably from upper airway
obstruction. Facial features included choanal atresia, cleft palate, bifid
epiglottis, and micrognathia. Congenital hypothyroidism and spiky hair were
present at birth. Mild developmental delay was described in two and might
have been related to hypothyroidism. Thyroid agenesis is possible. Other features included polyhydramnios
in three cases and low-set ears.