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Craniosynostosis update 1987.
Cohen MM Jr. Cohen MM Jr. Am J Med Genet Suppl. 1988;4:99-148. doi: 10.1002/ajmg.1320310514. Am J Med Genet Suppl. 1988. PMID: 3144990 Review.
Craniosynostosis syndromes and associations discussed include acrocraniofacial dysostosis, Apert syndrome, Beare-Stevenson cutis gyratum syndrome, Calabro syndrome, calvarial hyperostosis, chromosomal craniostenosis, Cole-Carpenter type osteogenesis imperfecta, Crouzon syndrome, …
Craniosynostosis syndromes and associations discussed include acrocraniofacial dysostosis, Apert syndrome, Beare-Stevenson cutis gyratum syn …
Hypomandibular faciocranial dysostosis in consanguineous parents revealed by ultrasound prenatal diagnosis.
Thauvin-Robinet C, Rousseau T, Laurent N, Durand C, Maingueneau C, Cormier-Daire V, Sagot P, Faivre L, Nivelon-Chevallier A. Thauvin-Robinet C, et al. Prenat Diagn. 2002 Aug;22(8):710-4. doi: 10.1002/pd.385. Prenat Diagn. 2002. PMID: 12210581
We report here the fourth case of hypomandibular faciocranial dysostosis (HFD). The diagnosis was made at birth on the association of severe retrognathia, microstomia, severe hypoglossia with glossoptosis, persistent buccopharyngeal membrane, median cleft pal …
We report here the fourth case of hypomandibular faciocranial dysostosis (HFD). The diagnosis was made at birth on the …
Esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup-shaped ears, congenital heart defect, and mental retardation--new MCA/MR syndrome in two affected sibs and a mildly affected mother?
Wieczorek D, Shaw-Smith C, Kohlhase J, Schmitt W, Buiting K, Coffey A, Howard E, Hehr U, Gillessen-Kaesbach G. Wieczorek D, et al. Am J Med Genet A. 2007 Jun 1;143A(11):1135-42. doi: 10.1002/ajmg.a.31752. Am J Med Genet A. 2007. PMID: 17497718
We discuss major differential diagnoses: Goldenhar, Feingold, CHARGE, and Treacher Collins syndromes show a few overlapping clinical features, but these diagnoses are unlikely as the clinical findings are unusual for Goldenhar syndrome and mutational screening of the MYCN, the CH …
We discuss major differential diagnoses: Goldenhar, Feingold, CHARGE, and Treacher Collins syndromes show a few overlapping clinical feature …