![]() ![]() Unlike previous cases, these patients had an incomplete phenotype, lacking choanal atresia and bifid epiglottis.īaris et al. (2002) described 2 male sibs, born to consanguineous parents, with congenital hypothyroidism, athyreosis, and cleft palate. Presumably this indicates an intrinsic abnormality of hair follicle development.Ĭastanet et al. Chatterjee (1998) stated that abnormal hair growth had persisted in the 2 sibs despite adequate thyroxine therapy. Maternal thyroid function was normal both basally and in response to TRH. In neither case was thyroid tissue detected by (123)I scanning or by ultrasonography of the neck. ![]() They were receiving thyroxine replacement, with normal physical growth, pubertal development, and anterior pituitary function. At the time of 1998 report, the boys were aged 16 and 13 years. (1998) restudied the brothers reported by Bamforth et al. The unusual spiky or curly hair extended onto the forehead.Ĭlifton-Bligh et al. Choanal atresia may have been responsible for the polyhydramnios which was observed in all 3 cases. ![]() (1993) reported a female child with the same syndrome. The parents were nonconsanguineous, and the mother and father were 23 and 27 years old, respectively, at the birth of their first child. Polyhydramnios was present in the third trimester in both pregnancies. (1989) described 2 brothers with athyroidal hypothyroidism, spiky hair, choanal atresia, cleft palate, and bifid epiglottis. ![]()
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