Hypothyroidism in an infant with ectodermal dysplasia and cleft lip and palate. J. DiMartino-Nardi1, A. Palomba2, A. Shanske1. 1) Pediatrics, Montefiore Medical Center, Bronx, NY; 2) Pediatrics, Bronx Municipal Hospital Center, Bronx, NY.
The association of ectodermal dysplasia (ED) and clefting deformity is well known and has been reported in patients with a variety of disorders.A combination of oral clefting, ectropion and ED are the cardinal features of the blepharocheilodontic syndrome.Reports of ED and hypothyroidism are rare.We recently evaluated an infant with ED, cleft lip and palate and primary hypothyroidism.
AK was the 3.8 kg product of an uneventful pregnancy born to consanguineous Pakistani parents with a left-sided cleft lip and palate,ectropion,and dermoid cysts on the face and scalp.He was admitted at 4 months of age to our hospital because of respiratory distress.His physical examination at that time revealed a malnourished hypotonic infant with the additional findings of ankyloglossia, a large fontanelle, sparse lashes, absent eyebrows and normal nails. His length was 59 cm, weight 4 kg, and HC was 38.5 cm.The anterior fontanelle measured 5 by 4.5 cm and the primary dentition had not yet erupted. Imaging studies revealed a pericardial effusion, dilated loops of bowel, the bone age of a newborn, the absence of tooth follicles, and a normal MRI of the head.Laboratory investigation revealed a normal male karyotype,a TSH greater than 700mU/ml,a barely detectable level of T4,and a normal cortisol.He was begun on synthroid therapy with resolution of the pericardial effusion and slow weight gain.
The association of ED and clefting is a rare event and when reported usually includes nail dysplasia.Our patient has normal nails,dermoid cysts,ectropion,and anodontia as well as hypothyroidism.It is difficult to implicate the action of a teratogen because of the variability of the critical times of origin and the involvement of derivatives of 2 germ layers.However, consanguinity suggests homozygosity for a single pleiotropic recessive gene.In fact, Zadik (Clin Dysmorph 1:24-27, 1983) reported a case with dermoid cysts,hyothyroidism,cleft palate and hypodontia.We propose that this and our case represent a discrete disorder.