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The following terms were not found in PubMed: Syndactyly-camptodactyly, fingers-bifid
Page 1
Aarskog syndrome: report of a family with review and discussion of nosology.
Teebi AS, Rucquoi JK, Meyn MS. Teebi AS, et al. Am J Med Genet. 1993 Jun 15;46(5):501-9. doi: 10.1002/ajmg.1320460508. Am J Med Genet. 1993. PMID: 8322809 Review.
Primary criteria include: short stature, hypertelorism, short nose with anteverted nares, maxillary hypoplasia, a crease below the lower lip, mild interdigital webbing with short and broad hands, short fifth finger with clinodactyly, and shawl scrotum. Secondary cri …
Primary criteria include: short stature, hypertelorism, short nose with anteverted nares, maxillary hypoplasia, a crease below the lower lip …
Feingold syndrome: clinical review and genetic mapping.
Celli J, van Bokhoven H, Brunner HG. Celli J, et al. Am J Med Genet A. 2003 Nov 1;122A(4):294-300. doi: 10.1002/ajmg.a.20471. Am J Med Genet A. 2003. PMID: 14518066 Review.
Feingold syndrome is characterized by autosomal dominant inheritance of microcephaly and limb malformations, notably hypoplastic thumbs, and clinodactyly of second and fifth fingers. Syndactyly frequently involves the second and third, as well as the fourth a …
Feingold syndrome is characterized by autosomal dominant inheritance of microcephaly and limb malformations, notably hypoplastic thum …
Saethre-Chotzen syndrome: review of the literature and report of a case.
Clauser L, Galiè M, Hassanipour A, Calabrese O. Clauser L, et al. J Craniofac Surg. 2000 Sep;11(5):480-6. doi: 10.1097/00001665-200011050-00007. J Craniofac Surg. 2000. PMID: 11314068 Review.
Saethre-Chotzen syndrome is an autosomal acrocephalosyndactyly syndrome whose gene has been assigned to chromosome 7p (TWIST). A case of a 13-year-old girl with Saethre-Chotzen syndrome (ACS III) is described. The features of the syndrome include: turr …
Saethre-Chotzen syndrome is an autosomal acrocephalosyndactyly syndrome whose gene has been assigned to chromosome 7p (TWIST). …
Leiomyoma of uterus in a patient with ring chromosome 12: case presentation and literature review.
Hajianpour MJ, Hajianpour AK, Habibian R, Wohlmuth C. Hajianpour MJ, et al. Am J Med Genet. 1996 May 17;63(2):335-9. doi: 10.1002/(SICI)1096-8628(19960517)63:2<335::AID-AJMG2>3.0.CO;2-S. Am J Med Genet. 1996. PMID: 8725781 Review.
In addition to the clinical manifestations generally observed in "ring syndrome" cases such as growth retardation, short stature, microcephaly, and mental deficiency, she had a broad nasal bridge, micrognathia with overbite, underdeveloped breasts, mild dorsal scoliosis, …
In addition to the clinical manifestations generally observed in "ring syndrome" cases such as growth retardation, short stature, mic …
Penta X syndrome: a case report with review of the literature.
Kassai R, Hamada I, Furuta H, Cho K, Abe K, Deng HX, Niikawa N. Kassai R, et al. Am J Med Genet. 1991 Jul 1;40(1):51-6. doi: 10.1002/ajmg.1320400110. Am J Med Genet. 1991. PMID: 1887850 Review.
The patient had a characteristic round face, a low hairline, hypertelorism, epicanthus, a long philtrum, high-arched palate, short and webbed neck, small hands and feet, clinodactyly of the fifth fingers, overlapping toes, and separation between the first and …
The patient had a characteristic round face, a low hairline, hypertelorism, epicanthus, a long philtrum, high-arched palate, short and webbe …