Rectal atresia as rare manifestation in EEC syndrome

Abstract

A newborn boy presented with bilateral split hand/foot malformation, sparse hair, dry and scaly skin, and nasolacrimal duct obstruction. Despite absence of cleft lip or palate, the findings fit the EEC syndrome. Additionally, the boy had rectal atresia. At least six further patients with EEC syndrome and anal atresia (two published, four unpublished) demonstrate that anorectal malformation is a further, but rare anomaly in EEC syndrome. © 1996 Wiley‐Liss, Inc.

Probable Noonan syndrome in a boy without PTPN11 mutation, manifesting unusual complications

“…Congenital rectal atresia is a rare malformation manifested as part of the dysmorphic syndromes, 9 such as CHARGE (coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomaly) syndrome, Ehlers -Danlos syndrome type IV 10 and ectodactylyectodermal dysplasia -clefting (EEC) syndrome. 11 Because Harris et al concluded that CHARGE syndrome should be restricted to infants with multiple malformation and choanal atresia and/or coloboma combined with other cardinal malformation (heart, ear, and genital) and with a total of at least three cardinal malfor-mation, 12 the present patient, who did not have choanal atresia or coloboma, could not be regarded as having CHARGE syndrome. Ehlers -Danlos syndrome and EEC syndrome were also unlikely diagnoses.…”

Ectrodactyly‐ectodermal dysplasia‐clefting (EEC) syndrome presenting with a large nephrogenic cyst, severe oligohydramnios and hydrops fetalis: a case report and review of the literature

“…Minor anomalies of the EEC syndrome include renal malformation, deafness, mental retardation (Rodini and Richieri-Costa, 1990) and choanal atresia (Christodoulou et al, 1989). Other recently reported associated anomalies were hypothalamopituitary insufficiency (Gershoni-Baruch et al, 1997), anorectal malformation (rectal atresia) (De Smet and Fryns, 1995;Majewski and Goecke, 1996) and thymic hypoplasia (Frick et al, 1997).…”

The Ectrodactyly‐Ectodermal Dysplasia‐Clefting Syndrome (EEC): Report of Five Cases

“…Hypothalamic-pituitary insufficiency (10) and anal atresia (11,12) have also been described in association with EEC syndrome.…”