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1997 1
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Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview.
De Maria B, Mazzanti L, Roche N, Hennekam RC. De Maria B, et al. Am J Med Genet A. 2016 Aug;170(8):1989-2001. doi: 10.1002/ajmg.a.37757. Epub 2016 May 19. Am J Med Genet A. 2016. PMID: 27196381 Review.
Major facial characteristics present in both entities, albeit often in differing frequencies, are excessive facial creases, hypertelorism, underdevelopment of the anterior part of the eyelids (anterior lamella), ectropion, broad nasal ridge and tip, thick and flarin …
Major facial characteristics present in both entities, albeit often in differing frequencies, are excessive facial creases, hypertelorism, u …
A probable case of Wiedemann-Rautenstrauch syndrome or neonatal progeroid syndrome and review of the literature.
Courtens W, Nuytinck L, Fricx C, André J, Vamos E. Courtens W, et al. Clin Dysmorphol. 1997 Jul;6(3):219-27. doi: 10.1097/00019605-199707000-00004. Clin Dysmorphol. 1997. PMID: 9220191 Review.
Abnormal findings included a generalized virtual absence of subcutaneous fat, sparse scalp hair, prominence of veins and muscles, a large and persistent anterior fontanelle and facial dysmorphism (triangular aged face, prominent eyes and scalp v …
Abnormal findings included a generalized virtual absence of subcutaneous fat, sparse scalp hair, prominence of veins an …
Wiedemann-Rautenstrauch syndrome. A case report and review of the literature.
Stoll C, Labay F, Geisert J, Alembik Y. Stoll C, et al. Genet Couns. 1998;9(2):119-24. Genet Couns. 1998. PMID: 9664208 Review.
OFC was normal despite apparent macrocephaly. During infancy a progeroid appearance was noted with sparse hair, prominent scalp veins, greatly widened anterior fontanelles, malar hypoplasia, and generalized lipoatrophy. ...
OFC was normal despite apparent macrocephaly. During infancy a progeroid appearance was noted with sparse hair, prominent s