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Fetal valproate syndrome: the Irish experience.
Mohd Yunos H, Green A. Mohd Yunos H, et al. Ir J Med Sci. 2018 Nov;187(4):965-968. doi: 10.1007/s11845-018-1757-6. Epub 2018 Feb 3. Ir J Med Sci. 2018. PMID: 29396778
RESULTS: A total of 29 cases reported in the last 21 years. Features commonly described are prominent metopic ridge, midface hypoplasia, epicanthic folds, micrognathia and broad and flat nasal bridge. ...
RESULTS: A total of 29 cases reported in the last 21 years. Features commonly described are prominent metopic ridge, mi …
How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?
Ravel A, Chouery E, Stora S, Jalkh N, Villard L, Temtamy S, Mégarbané A. Ravel A, et al. Am J Med Genet A. 2011 Apr;155A(4):880-4. doi: 10.1002/ajmg.a.33879. Epub 2011 Mar 17. Am J Med Genet A. 2011. PMID: 21416592
He had psychomotor retardation, short stature, umbilical hernia, a secundum atrial septal defect, seizures, hearing impairment, and dysmorphic features consisting of microcephaly, a prominent metopic ridge, upslanting palpebral fissures, synophrys, enophthalm …
He had psychomotor retardation, short stature, umbilical hernia, a secundum atrial septal defect, seizures, hearing impairment, and dysmorph …
Familial occurrence of Summitt syndrome or a variant example of Carpenter syndrome?
Pierquin G, Seligmann R, Van Regemorter N. Pierquin G, et al. Genet Couns. 1992;3(2):101-5. Genet Couns. 1992. PMID: 1642806
In this report, we describe three sibs presenting an identical malformation syndrome i.e.: acrocephaly, brachydactyly, prominent metopic ridge, broad depressed nasal bridge, narrow maxillae, obesity and normal intelligence. ...
In this report, we describe three sibs presenting an identical malformation syndrome i.e.: acrocephaly, brachydactyly, prominent m …