In this report we describe two fra(X) adults and two prepubertal fra(X) brothers with a combination of distinct phenotypic findings: extreme obesity, short stature, stubby hands and feet and diffuse hyper‐pigmentation. These clinical abnormalities may be an additional indication of a specific hypothalamic disturbance in the fra(X) syndrome.
We describe 3 men with acquired lesions of the central nervous system (one male with tumor of the third ventricle, two males with peri- or postnatal accidents). In all three patients macroorchidism was associated with facial characteristics similar to those found in fra(X) males, but they were fra(X)-negative. The finding of megalotestes associated with a partial fra(X) phenotype in the present patients and, more particularly, the documentation of a hypothalamic tumor in the first patient, suggests that a specific hypothalamic lesion in fra(X) males is responsible for some of their manifestations.
In this report we summarize the findings in a genetic-diagnostic survey of an institutionalized population of 173 severely mentally retarded patients. The etiological study was based on a clinical genetic approach with special attention for dysmorphology and neurological findings. A constitutional disorder, as the direct cause of the severe mental handicap, was found in 75 patients (43.35%). A detailed survey of the different data and findings are given, and compared with the results of previous studies.
In this report we describe two families with variable manifestations of the EEC syndrome. The findings in these families confirm that no symptom is obligatory for the diagnosis of EEC syndrome. In the absence of cleft lip/palate, EEC patients have a characteristic facial morphology with maxillary hypoplasia, short philtrum, and broad nasal tip. This family came to our attention after the birth of two sisters with a variable pattern of limb defects.The older daughter was 3 years old at the time of examination. She had complete cutaneous syndactyly 3/4 on the left hand, and a split hand deformity with absence of the middle finger and cutaneous syndactyly 1/2 on the right hand (fig 1). Except for bilateral brachymetatarsy 4/5, both feet were normal. She had fine, silver-blond hair but no other signs of ectodermal dysplasia. The face was peculiar with a short philtrum, maxillary hypoplasia, and a broad nasal tip. Physical and psychomotor development were normal.Her 1 year old sister had an atypical lobster claw deformity of both hands; the phalanges of the third fingers were absent bilaterally with hypoplasia of the third metacarpal (fig 2). There was, in addition, mild cutaneous syndactyly 1/2 and camptodactyly of the second to fourth fingers. On the right foot an accessory rudimentary toe was present between the first and second toes without extra metatarsals (fig 3). The nails and hair were normal. She had the same facial characteristics as found in her older sister, that is, short philtrum, maxillary hypoplasia, and broad nasal tip.Clinical examination of their 30 year old mother showed the same facial appearance as her two Figure I The hand anomalies in the older child ofthefirstfamily: cutaneous syndactyly 3/4 in the left hand and split hand deformity in the right hand.
The propositus of this report presents a peculiar dysmorphic syndrome associated with severe mental retardation and epileptic attacks. Morphological stigmata include a round, fatty face with large, somewhat protruding tongue, large normally formed ears, relative microcephaly, abundant abdominal fat, dwarfism with hyperkyphosis and short neck.
Analogous phenotypic abnormalities were present in the mother and a maternal cousin. The clinical and familial findings in this apparently rare mental retardation syndrome with apparently X‐linked dominant or autosomal dominant inheritance with variable expression and penetrance are discussed.
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