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At least 541 records · Page 30Linked to original sources
PubMed2003

Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line.

Observed mutation rates in humans appear higher in male than female gametes and often increase with paternal age. This bias, usually attributed to the accumulation of replication errors or inefficient repair processes, has been difficult to study directly. Here, we describe a sensitive method to quantify substitutions at nucleotide 755 of the fibroblast growth factor receptor 2 (FGFR2) gene in sperm. Although substitution levels increase with age, we show that even high levels originate from infrequent mutational events. We propose that these FGFR2 mutations, although harmful to embryonic development, are paradoxically enriched because they confer a selective advantage to the spermatogonial cells in which they arise.

Acrocephalosyndactylia↗
PubMed2005

Audiological profile in Apert syndrome.

Apert syndrome is one of the craniosynostosis syndromes and is commonly associated with conductive hearing loss, but there are contradicting reports regarding the cause. Retrospective analysis of case notes of Apert syndrome patients seen between 1970 and 2003 was therefore undertaken. Seventy case notes were obtained; 59% were males. The incidence of congenital hearing impairment was 3-6%. Almost all had otitis media with effusion, which tends to persist into adulthood. More than 56% developed permanent low frequency conductive hearing loss by 10-20 years of age.

Acrocephalosyndactylia↗
PubMed1975

Surgical treatment of chronic papilloedema in children.

A surgical technique for optic nerve decompression in children is described and contrasted with other techniques described in the literature. The operation was effective in relieving long-standing disc oedema in two cases in which the swelling was due to raised intracranial pressure. Photographic evidence is presented. The indications for surgery and how its effect is exerted are discussed.

Acrocephalosyndactylia↗
PubMed1977

Structural alterations of extraocular muscle associated with Apert's syndrome.

An inferior oblique muscle from a patient with Apert's syndrome was examined by light and electron microscopy. Alterations in the muscle fibres, the myoneural junctions, and intramuscular nerves were observed. These data are not compatible with the widespread notion that motility disturbances in this syndrome are solely due to mechanical limitations.

Acrocephalosyndactylia↗
PubMed1976

Pfeiffer syndrome: report of a family and review of the literature.

A 5-year-old boy and his father with Pfeiffer syndrome are described. They had acrocephaly, hypertelorism, antimongoloid slant of the palpebral fissures, protrusion of the eyes, large and broad nose, small mandible, irregularly placed teeth, additional upper canine, high-arched palate, partial syndactyly of fingers and toes, brachydactyly of toes, valgus deformity of hypertrophied triangular great toes, broad phalanges of the great toes and broad first metatarsals, accessory epiphyses lateral to the interphalangeal joint of the great toes, and normal intelligence. To our knowledge, this is the first family in which the syndrome is almost totally confined to the head and feet--it spares the upper limbs except for partial skin syndactyly between the fingers--and the third family showing inheritance through three successive generations suggesting an autosomal dominant mode of inheritance. The published papers are reviewed and the clinical and x-ray signs are tabulated.

Acrocephalosyndactylia↗
PubMed1978

Linkage analysis in dominant acrocephalosyndactyly.

Linkage analysis was performed on a previously reported family in which multiple dominantly inherited acrocephalosyndactyly syndromes were present. An underlying axiom of linkaged analysis is that the trait analysed be monogenic. This prerequisite was presumptively established in the single kindred analysed because acrocephalosyndactyly was observed in multiple cases in multiple generations.

Acrocephalosyndactylia↗
PubMed1980

Pitfalls of genetic counselling in Pfeiffer's syndrome.

A family with Pfeiffer's syndrome is presented in which members of two generations showed only partial but relevant syndactyly before a child was born, in the third generation, with the full acrocephalosyndactyly syndrome.

Acrocephalosyndactylia↗
PubMed1981

Variable expression in Pfeiffer syndrome.

A female infant with Pfeiffer syndrome (acrocephalosyndactyly V) is presented. Her mother has no limb malformations, but has craniofacial features with strongly suggest that she is also affected, although more mildly. This family indicates that wide intrafamilial variation of Pfeiffer syndrome is possible and suggests that without detailed investigation mildly affected subjects can remain undiagnosed, which may lead to erroneous genetic counselling.

Acrocephalosyndactylia↗
PubMed1982

An unusual form of familial acrocephalosyndactyly.

A family is described in which at least six members have an unusual form of acrocephalosyndactyly showing autosomal dominant inheritance. The most characteristic feature in the more severely affected individuals is duplication of the distal phalanx of the hallux. Review of family photographs suggests that the cosmetic outcome in apparently affected infants may be much better than anticipated.

Acrocephalosyndactylia↗
PubMed1988

Intellectual development in Apert's syndrome: a long term follow up of 29 patients.

Twenty-nine patients with Apert's syndrome were ascertained through hospital records. The mean age was 19.3 years (range eight to 35 years). Further information was obtained on their intelligence, education, and employment records. Fourteen patients (48%) had a normal or borderline IQ (greater than 70), nine patients (31%) were mildly mentally retarded (IQ 50 to 70), four patients (14%) were moderately retarded (IQ 35 to 49), and two patients (7%) were severely retarded (IQ less than 35). Early craniectomy did not appear to improve intellectual outcome. Six of the seven school leavers with normal or borderline intelligence were in full time employment or vocational training.

Acrocephalosyndactylia↗
PubMed1989

Auralcephalosyndactyly: a new craniosynostosis syndrome or a variant of the Saethre-Chotzen syndrome?

A mother and son are reported with bilateral, symmetrical syndactyly of the third, fourth, and fifth toes, mild craniosynostosis of the coronary sutures, and small pinnae. The same combination of malformations was recently described as a new syndrome by Kurczynsky and Casperson in a mother and her daughter. In addition, in the present family, the mother had fusion of two cervical vertebrae and a partial duplication of the first metatarsal. The child had a bilateral cleft lip and palate. The question is raised whether these patients represent a new syndrome or a variant of the Saethre-Chotzen syndrome.

Abnormalities, Multiple↗
PubMed1992

The mapping of a gene for craniosynostosis: evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7p.

Craniosynostosis or premature closure of the cranial sutures is a common abnormality occurring in about 1 in 2500 children. There is evidence of mendelian inheritance in some 20% of cases. Published reports of patients with structural alterations of the short arm of chromosome 7 have suggested that two or more genes for craniosynostosis may be situated in this region. The Saethre-Chotzen syndrome (acrocephalosyndactyly type III) is one of the most common autosomal dominant craniosynostosis syndromes. Results of molecular genetic linkage studies provide evidence for localisation of the gene responsible to distal chromosome 7p.

Acrocephalosyndactylia↗