Craniosynostosis, midfacial hypoplasia, and foot abnormalities: An autosomal dominant phenotype in a large Amish kindred

Jackson, Charles E.; Weiss, Lester; Reynolds, W. Ann; Forman, Tod F.; Peterson, James A.

doi:10.1016/s0022-3476(76)81050-5

Cited by 80 publications

(70 citation statements)

References 3 publications

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“…When JWS cases have been investigated by radiographic means, skeletal anomalies including short and broad first metatarsals, fused metatarsals, navicular-cuneiform coalition and calcaneo-cuboid coalition are detected [Jackson et al, 1976;Gorlin et al, 1990]. Despite the absence of craniosynostosis, our patient was assigned to JWS because calcaneo-cuboid coalition seemed to be specific for JWS [Jackson et al, 1976;Gorlin et al, 1990].…”

Section: Discussionmentioning

confidence: 94%

“…The appendicular manifestations of the various craniosynostoses were utilized in the pre-molecular era for purposes of clinical classifications and syndrome delineation. The documentation of the Jackson-Weiss syndrome (JWS) in an Amish pedigree, however, in which the clinical spectrum in affected relatives apparently encompassed several craniosynostoses, suggested that these syndromes were allelic disorders [Jackson et al, 1976].…”

Section: Introductionmentioning

confidence: 99%

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Clinical findings in a patient withFGFR1 P252R mutation and comparison with the literature

et al. 2000

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We report on a patient with the skeletal findings of Jackson-Weiss syndrome, who manifests only mild craniofacial anomalies. Molecular analysis of her fibroblast growth factor receptor 1 gene (FGFR1) identified a heterozygous P252R missense mutation, previously only reported with FGFR1-Pfeiffer syndrome like manifestations. Mutations in the immunoglobulin-like, II-III (IgII-III) linker region of FGFR1 and FGFR3 molecules may present as a skeletal dysplasia affecting the appendicular skeleton including, brachydactyly, short broad middle phalanges, phalangeal epiphyseal coning and broad halluces. This communication is a further example of the phenomenon of an activated FGFR molecule resulting in overlapping manifestations in FGFR syndromes.

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Section: Discussionmentioning

confidence: 94%

Section: Introductionmentioning

confidence: 99%

Clinical findings in a patient withFGFR1 P252R mutation and comparison with the literature

et al. 2000

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“…Other than individual 111-6, no other relative had a triphalangeal thumb or evidence of thenar hypoplasia. Infrequent anomalies attributable to pleiotropy have been described in other syndromes with craniosynostosis [Cohen, 1975;Jackson et al, 1976;Escobar and Bixler, 1977;Cohen, 19861. Isolated craniosynostosis, segregating as an autosomal dominant disorder, has been reported previously [Sheldon et al, 1931;Gordon, 1959;Bell, 1961;Kosnick et al, 1975;Hennekam and Van den Boogaard, 19901, and documented in severa1 large pedigrees [Herrmann et al, 1969;Hunter and Rudd, 19761. The H-family, detailed by Herrmann et al (1969), consists of 11 affected individuals in 3 generations.…”

Section: Discussionmentioning

confidence: 99%

Newly recognized autosomal dominant disorder with craniosynostosis

et al. 1993

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We report a family with a newly recognized form of autosomal dominant craniosynostosis. The disorder has high penetrance and variable expression with respect to sutural involvement and cranial abnormalities, ranging from fronto-orbital recession to clover-leaf skull deformity. Associated problems included headache, poor vision, and seizures; intelligence, however, is normal. Assignment of a well-described syndromic designation, e.g., Crouzon, Pfeiffer, Saethre-Chotzen, or Jackson-Weiss, is precluded based upon the absence of characteristic changes, i.e., midfacial hypoplasia, orbital hypertelorism, blepharoptosis, hand anomalies, or foot anomalies. The large size of this family and high penetrance of the disorder suggests that this may be an excellent candidate for positional cloning of a locus important in craniofacial development.

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“…Other relatives displayed phenotypic combinations of these two disorders. Jackson et al (1976) reported an Amish kindred in which the phenotypic expression was so variable that all dominant acrocephalosyndactyly types, except for the Apert type, were noted.…”

Section: Discussionmentioning

confidence: 99%