Syndromic association of cleft palate, bilateral choanal atresia, curly hair, and congenital hypothyroidism.
نویسندگان
چکیده
We describe a patient with the unusual association of cleft palate, bilateral choanal atresia, curly hair, and congenital hypothyroidism. This association has been reported before in two brothers and may represent a new syndrome.
منابع مشابه
Congenital Hypothyroidism But Not Athyreosis
Background: Thyroid dysgenesis is the most frequent cause of congenital hypothyroidism (CH), and its genetic basis is largely unknown. Hitherto, two mutations in the human thyroid transcription factor 2 (TTF-2) gene have been described in unrelated cases of CH with cleft palate, spiky hair, variable choanal atresia, and complete thyroid agenesis. Here, we describe a novel TTF-2 mutation in a fe...
متن کاملA novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate.
Thyroid dysgenesis is the most common cause of congenital hypothyroidism (CH) and its genetic basis is largely unknown. Here, we describe the second homozygous missense mutation in TTF-2 (or FOXE1), a transcription factor that has been implicated in thyroid development. Two male siblings, born to consanguineous parents, presented with CH, athyreosis and cleft palate and were found to be homozyg...
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متن کاملOverexpression of mouse TTF-2 gene causes cleft palate
In humans, mutations of the gene encoding for thyroid transcription factor-2 (TTF-2 or FOXE1) result in Bamforth syndrome. Bamforth syndrome is characterized by agenesis, cleft palate, spiky hair and choanal atresia. TTF-2 null mice (TTF-2(-/-) ) also exhibit cleft palate, suggesting its involvement in the palatogenesis. However, the molecular pathology and genetic regulation by TTF2 remain lar...
متن کاملBilateral Choanal Atresia with Tessier Type 3 Facial Cleft: A Rare Association
Five-day-old male neonate born to non-consanguineous parents by normal vaginal delivery was presented with deformity of lip, face and eyelid on the right side, and cyanosis. The cyanosis had improved soon after endotracheal intubation. Examination revealed deformity of upper lip, upper jaw and lower eyelid of right eye; this type of craniofacial cleft is called as Tessier type 3 (Fig. 1). There...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 30 5 شماره
صفحات -
تاریخ انتشار 1993