Congenital hypothyroidism, spiky hair, and cleft palate.

Abstract

SUMMARY Two brothers are described with athyroidal hypothyroidism, spiky hair, choanal atresia, cleft palate, and bifid epiglottis. Polyhydramnios was present in the third trimester of each pregnancy. These abnormalities appear to represent a new syndrome. Case reportsThe brothers are the offspring of healthy, nonconsanguineous, Caucasian parents. The ages of the mother and father were 23 and 27 years respectively at the birth of their first infant. The family history is unremarkable.The first pregnancy proceeded until the third trimester when mild polyhydramnios was noted. Labour started spontaneously at 39 weeks' gestation and the infant was delivered by emergency caesarean section for fetal distress. Apgar scores were 7 and 9 at one and five minutes after delivery.The infant suffered repeated episodes of apparent airway obstruction. Shortly after birth, examination of the airways showed a palatal cleft extending to the posterior one-third of the hard palate. At the posterior edge of the defect the oropharynx had fused with the roof of the nasopharynx, completely obliterating the choanae. The epiglottis was hypoplastic and bifid but the larynx was of normal diameter. The jaw was retrognathic. Scalp hair was sparse and spiky. Neuromuscular tone was increased.The neonatal period was complicated by repeated apnoeic episodes which frequently followed feeds and were associated with opacities on the chest radiograph. Aspiration pneumonitis was considered §Present address: Clinical Genetics Unit, University of British Columbia, 4490Oak Street, Vancouver, BC V6H 3V5, Canada.Received for publication 13 August 1986. Revised version accepted for publication 8 March 1988. to be the most likely cause, although this was not substantiated radiologically.The choanae were repaired at six weeks of age and the cleft palate at 18 months; both operations were uneventful.The infant had been transferred from an area whicia was not served by the regional congenital hypothyroid screening programme at the time of birth. When this was appreciated at three months of age, screening was performed. The initial result showed a high TSH. A further serum sample was taken; the serum TSH was 181 IU/l (normal <5) and the free T4 concentration was 5 pmol/l (normal 60 to 150). No thyroid uptake was noted on I123 scan.At the age of three years the infant was functioning developmentally at a two year level. Delay was most marked in the cognitive and language fields. Physical growth has been normal. Hair growth has been slow and it was not until 18 months of age that sufficient hair had grown to cover the scalp. He had only required one hair cut in his life. Nail growth and teeth are normal. Sweating is normal and dermal ridge sweat pore count is normal.1The second infant was born two years after the first infant. Polyhydramnios was again present in the third trimester and emergency caesarean section was required for fetal distress. The Apgar scores were 6 and 9 at one and five minutes. Obstructed respiration was immediately observed and examinatio...

Endocrine abnormalities of patients with cleft lip and/or cleft palate during the neonatal period

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Screening for mutations in transcription factors in a Czech cohort of 170 patients with congenital and early-onset hypothyroidism: identification of a novel PAX8 mutation in dominantly inherited early-onset non-autoimmune hypothyroidism

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