Синдром атрезії хоан-ателії-гіпотиреозу-затримки статевого дозрівання-низькорослості

Визначення(English summary)

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by choanal atresia, athelia or hypoplastic nipples, branchial arch abnormalities, external ear malformations, hearing loss, thyroid abnormalities, delayed or absent pubertal development, and short stature. Developmental delay / intellectual disability are variably reported.