Craniosynostosis suggestive of Saethre-Chotzen syndrome: Clinical description of a large kindred and exclusion of candidate regions on 7p

Journal Article · Fri May 03 00:00:00 EDT 1996 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/(SICI)1096-8628(19960503)63:1<177::AID-AJMG31>3.3.CO;2-G· OSTI ID:441197

von Gernet, S; Muehlbauer, W; Fairley, J ^[1]

---

1. Staedtisches Krankenhaus Bogenhausen, Muenchen (Germany); and others

We describe the clinical manifestations of an autosomal dominant form of craniosynostosis in a large family with eight affected relatives. Unilateral or bilateral coronal synostosis, low frontal hair line, strabismus, ptosis, and partial cutaneous syndactyly of fingers and toes are findings suggestive of the diagnosis of Saethre-Chotzen syndrome. The disease locus was excluded from the two adjacent Saethre-Chotzen candidate regions on 7p by linkage analysis with markers D7S664 and D7S507. This indicates heterogeneity of Saethre-Chotzen syndrome with a locus outside the candidate regions on 7p. 30 refs., 6 figs., 2 tabs.

• OSTI ID: 441197
• Journal Information: American Journal of Medical Genetics, Vol. 63, Issue 1; Other Information: PBD: 3 May 1996
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
PATIENTS
HEREDITARY DISEASES
SKELETAL DISEASES
PHENOTYPE
GENOTYPE
GENETICS
GROWTH FACTORS
RECEPTORS
GENE MUTATIONS
HUMAN CHROMOSOME 7
GENETIC MAPPING
FIBROBLASTS
DOMINANT MUTATIONS
BIOLOGICAL MARKERS