Three children are described from two sibships. They share infantile ataxia with hypo/aplastic vermis, hepatic fibrocirrhosis, slender-shaped skeleton, peculiar face, and moderate mental retardation. One of them had a kidney biopsy that showed mild interstitial fibrosis and amyloid deposit, but had no functional impairment. Another suffered moderate proximal tubular acidosis. Two children had unilateral or bilateral choroidal coloboma. This pattern of defects is consistent with a syndrome previously reported in two other sibships. The acronym COACH (Cerebellar vermis hypo/aplasia, Oligophrenia, congenital Ataxia, Coloboma, Hepatic fibrocirrhosis) is suggested.
We report on an Arabic sibship originating from Morocco in which four children manifest an undiagnosed sublethal multiple congenital anomaly/mental retardation (MCA/MR) syndrome of intrauterine growth retardation (IUGR), microcephaly, large soft pinnae, telecanthus or true hypertelorism with squint, flat face, unusual hooked nose, very narrow mouth, retrognathia, and extremely severe neurologic impairment. One child was stillborn. Three others died in a cachectic state during their second year. One child had a severe cerebral malformation compatible with semilobar holoprosencephaly. Other inconstant manifestations are anterior chamber cleavage defect, preaxial polydactyly of feet, interventricular septal defect, and atresia of the external auditory meatus. Autosomal recessive inheritance is likely.
We report about two sibs showing a common pattern of birth defects, with a pedigree suggestive of autosomal recessive heredity. The main fcatures are intrauterine growth failure with very low birthweight; disproportionate dwarfism with predominantly distal shortening of limbs; small cubitally inclined clenched hands; microcephaly with Seckel‐like faciès and delayed psychomotor development. X‐ray findings include metaphysal flare, V‐shaped femoral meta‐physes and bowing of forearms. Primordial microcephalic osteodysplastic dwarfism Type II is discussed. Metabolic and nutritional data are presented and discussed.
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