Angelman syndrome: are the estimates too low?

More than 300 cases of Angelman Syndrome (AS) have been reported. AS is still considered a clinical diagnosis because only approximately 80% of those individuals who meet the clinical criteria will have a maternal deletion of chromosome 15q11-13. Of the reported cases of AS, very few are of adults with AS.

Three conditions in neonatal asphyxiating thoracic dysplasia (Jeune) and short rib-polydactyly syndrome spectrum: a clinicopathologic study.

Clinicopathologic examination of eight patients with asphyxiating thoracic dysplasia (Jeune; ATD) disclosed two different types, which were designated as type 1 and type 2. Type 1 ATD was characterized by the presence of radiologically irregular metaphyseal ends and histopathologically irregular cartilage bone junction with patchy distribution of physeal zone of hypertrophy. Type 2 ATD showed radiologically smooth metaphyseal ends and histopathologically diffusely retarded and disorganized physes with smooth cartilage bone junctions.

Cornelia de Lange syndrome in a mother and daughter.

The Cornelia de Lange syndrome was first described in 1933. Since then, more than 250 cases have been described in the medical literature. It has generally been considered to be sporadic, but several authors have raised the possibility of genetic factors.

Dup(4p)del(9p) in a familial mental retardation syndrome. Resemblance to de Lange syndrome detected by high-resolution banding.

A young woman with features resembling de Lange syndrome had a normal banded karyotype. Similar phenotypes were present in a maternal aunt and uncle. Utilizing high-resolution banding, the propositus was found to have a chromosomal abnormality characterized by dup(4p)del(9p).

Cognition in cerebral gigantism: are the estimates of mental retardation too high?

The psychological findings on 10 children with cerebral gigantism are reviewed. Infants with cerebral gigantism showed a consistent pattern of psychomotor delay. Preschool age children demonstrated signs of a primary language disorder, and school-age patients had learning disabilities.

Yq- in a child with livedo reticularis, snub nose, microcephaly, and profound mental retardation.

A child with terminal deletion of the long arm of the Y chromosome (Yq--) presented with marked livedo reticularis, snub nose, microcephaly, short stature, and other dysmorphic features. He was profoundly mentally retarded. Most of the patients with Yq- have been reported as having varying dysmorphic features, mental retardation, and short stature.

Behavioral correlates in the happy puppet syndrome: a characteristic profile?

Nine children with the "happy puppet" syndrome are presented here and 19 previously reported cases are reviewed. A characteristic psychological profile is suggested by the children's "unfocused" activities and inconsistent responsiveness to their surroundings. Behavioral characteristics are atypical for mental age and do not appear to represent unusual seizure equivalents.

An unusual case of short limbed dwarfism and thoracic dystrophy with normal spine, hands and feet.

We report an unusual form of chondrodystrophy identified in a female infant at birth. She was severely delayed developmentally and expired at one year of age. The dwarfism was characterized by brachymelia, dysmorphic features and unusual radiologic findings of the extremities and thorax.

7q deletion syndrome (7q32 leads to 7qter).

Four independently ascertained children who presented with unusual facies and delayed mental and physical development were found to have a similar deletion of part of the long arm of chromosome 7 (46,XX or XY, del(7)(q32); 46,XX or XY,del(7)(pter leads to q32:)). Comparison of the findings of these four cases with one other case report of a similar deletion revealed similar dysmorphologic features in all five cases.

Macrodactyly and epidermal nevus.

A case is presented of a child with the two congenital anomalies of macrodactyly and epidermal nevus. Macrodactyly was noted at birth; nevus unius lateris became apparent at three months. The chance association of these two rare anomalies as individual sporadic occurrences is exceedingly unlikely.

Chondrodysplastic dwarfism, cleft palate and micrognathia in a neonate, a new syndrome?

We describe a female infant with lethal, short-limb dwarfism, micrognathia, hydrocephalus with occipital encephalocele and a generalized spondyloepimetaphyseal dysplasia who probably has the same condition that was described by Rolland et al. (1972) and by Langer et al. (1976).