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At least 19 recordsLinked to original sources
PubMed1983

[Acrocephaly, cranial asymmetry, brachydactyly, syndactyly, progressive senile dementia--a new type of acrocephalosyndactyly?].

Clinicogenetic assessment of a family whose six members proved to be carriers of an identical pathological trait allowed the delineation of the clinical picture of the hereditary disease described. Its major components include congenital cranial and facial abnormalities, malformed extremities characteristic of acrocephalosyndactyly, and a progressive pattern of psychic disturbances and higher cortical dysfunctions arising in old age. The first to come are increasing acoustic agnosia and disconnected delusions (stage of psychotic disorders) which are followed by progressive overall mental retardation with concomitant deactualization and disappearance of delusional feelings (stage of dementia). It has been suggested that cases of this kind make up a new (viz., the sixth) type of acrocephalosyndactyly with an autosomal dominant pattern of hereditary transmission. The mutant gene appears to be pleiotropic and characterized by complete penetrance and slightly varying expressivity.

Acrocephalosyndactylia↗
PubMed1987

Agenesis of the corpus callosum and limbic malformation in Apert syndrome (type I acrocephalosyndactyly).

Agenesis of the corpus callosum and malformation of limbic structures are described in a patient with Apert syndrome, a disorder characterized by acrocephaly, severe syndactyly, and often, mental retardation. Including the present case, malformation of the corpus callosum and/or limbic structures apparently has been reported in a total of ten patients with the syndrome. Complete or partial agenesis of the corpus callosum was found in six patients, septal defects in three, and arhinencephaly and ammonic hypoplasia in one. Since malformation or limbic structures are, to our knowledge, a consistent feature of agenesis of the corpus callosum, it seems that limbic abnormalities could be important for the pathogenesis of mental retardation not only in Apert syndrome, but also in other acallosal patients.

Acrocephalosyndactylia↗
PubMed1979

The Summitt syndrome: observations on a third case.

A 6 1/2 year old male presented with acrocephaly, brachydactyly, clinodactyly, mild syndactyly of the hands and feet, genu valgum, and marked obesity. Roentgenograms of the hands revealed hypoplasia or aplasia of the middle phalanges. Roentgenograms of the feet revealed hypoplasia of the middle phalanges and deformity of the proximal phalangeal epiphyses of the great toes. Chromosomes studies revealed a normal 46,XY karyotype, and psychological testing revealed low normal intelligence. Current data support autosomal recessive inheritance, although X-linkage cannot be excluded.

Child↗
PubMed1979

Duplication 6q syndrome.

Duplication (partial trisomy) of the long arm of chromosome 6 has been described in 5 children [Robertson et al, 1975, Chen et al, 1976, Clark, 1977]. We wish to report here an additional case due to a familial translocation in which the proband's karyotype is 46,XX,der(3),rcp(3;6)(p25;q21)mat. The phenotypes of the 6 children with duplication 6q are strikingly similar. Each child has duplication involving approximately the distal 1/3 to 1/2 of the long arm of chromosome 6. Distinctive features present in all 6 children include microcephaly, acrocephaly, prominent forehead, flat facial profile, depressed nasal bridge, flat malar areas, "carp" mouth, micrognathia and mental retardation. The phenotype of the duplication 6q syndrome is distinctive enough to be clinically recognizable.

Abnormalities, Multiple↗
PubMed1985

Familial Sotos syndrome (cerebral gigantism): craniofacial and psychological characteristics.

Most reported cases of Sotos syndrome are sporadic, but autosomal dominant and recessive inheritance patterns have been suggested. Ascertainment of a two-generation family through a 7-year-old proposita with a learning disability allowed the relatively unbiased study of two affected relatives. Developmental delay was not pronounced in the patient's mother or sister; craniofacial characteristics at variance with the characteristic description included acrocephaly and maxillary prominence. Steepness of the anterior cranial base angle and protrusion of the middle and lower face, shown in all three patients by cephalometric radiographs, deserve further evaluation as diagnostic criteria.

Adult↗
PubMed1987

Herrmann-Opitz syndrome: report of an affected fetus.

In 1969, Herrmann and Opitz described a syndrome of acrocephaly, oligosyndactyly, hypertelorism, and mental retardation. We report on a second case, a fetus with cleft palate, urethral astresia, oligohydramnios, and intrauterine death.

Abnormalities, Multiple↗
PubMed1987

Acrocephalopolysyndactyly type II--Carpenter syndrome: clinical spectrum and an attempt at unification with Goodman and Summit syndromes.

Carpenter syndrome (ACPS type II) was first described by Carpenter in 1901. The syndrome consists of acrocephaly, soft tissue syndactyly, brachy- or agenesis mesophalangy of the hands and feet, preaxial polydactyly, congenital heart disease, mental retardation, hypogenitalism, obesity, and umbilical hernia. Here we review the literature on Carpenter syndrome and add 2 affected sibs with marked intrafamilial variability. This review showed that 2 reported variations of Carpenter syndrome, Goodman and Summitt syndromes, actually fall within the clinical spectrum of this disorder. This confirms earlier suggestions of Gorlin (personal communication 1982) and Hall et al [Am J Med Genet 5:423-434, 1980].

Acrocephalosyndactylia↗
PubMed1988

A new acro-cranio-facial dysostosis syndrome in sisters.

Two sisters born to consanguineous parents had a syndrome of short stature, acrocephaly, hypertelorism, proptosis, ptosis, down-slanting palpebral fissures, high nose bridge and anteverted nares, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, sensorineural and conductive deafness, proximally placed first toes and digitalized thumbs, bulbous digits, metatarsus adductus, and pectus excavatum. Radiological abnormalities included craniosynostosis, increased mandibular angle and antegonial notching of mandible; hypoplastic first metacarpals and metatarsals; hypoplastic distal phalanges; partial duplication of the distal phalanx of the thumb; malformed malleus and incus; tall lumbar vertebrae, increased interpedicular distance, and posterior scalloping; flared iliac wings, narrow supraacetabular regions, acetabular "dysplasia," and coxa valga. Autosomal recessive inheritance is suggested.

Child, Preschool↗