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Quoted phrase not found in phrase index: "Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome"
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 …
4q- syndrome.
Townes PL, White M, Di Marzo SV. Townes PL, et al. Am J Dis Child. 1979 Apr;133(4):383-5. doi: 10.1001/archpedi.1979.02130040037008. Am J Dis Child. 1979. PMID: 433854
Comparison of these four patients suggests a characteristic phenotype in the 4q- syndrome: cleft palate, satyr deformity of the pinnae, snub nose, retrognathia and micrognathia, hypertelorism, oropharyngeal hypothonia or upper airway obstruction, cardiac defect, clinoda …
Comparison of these four patients suggests a characteristic phenotype in the 4q- syndrome: cleft palate, satyr deformity of the pinna …
Tricorhinophalangeal Syndrome type 1: a novel variant and Perthes-like hip changes as first manifestation.
Cardoso I, Rodrigues M, Grangeia A, Melão L, Aguiar F, Costa G, Brito I. Cardoso I, et al. Acta Reumatol Port. 2021 Apr-Jun;46(2):186-188. Acta Reumatol Port. 2021. PMID: 34285179 Free article. English.
We report a case of Trichorhinophalangeal syndrome type I (TRPS1) in a 16-year-old boy who was referred due to painless finger deformities over the last year. ...On examination the patient presented a bulbous nose, thin and sparse scalp hair; pectus carinatum; clinodact …
We report a case of Trichorhinophalangeal syndrome type I (TRPS1) in a 16-year-old boy who was referred due to painless finger deform …
The orthopedic aspects of the fetal alcohol syndrome.
Spiegel PG, Pekman WM, Rich BH, Versteeg CN, Nelson V, Dudnikov M. Spiegel PG, et al. Clin Orthop Relat Res. 1979 Mar-Apr;(139):58-63. Clin Orthop Relat Res. 1979. PMID: 455851
Eight cases of the fetal alcohol syndrome are presented with emphasis on their frequent orthopedic anomalies, i.e. hypoplastic toenails (100%), shortened fingers, usually the fifth (75%), radioulnar synostosis, camptodactyly of fingers, clinodactyly of toe …
Eight cases of the fetal alcohol syndrome are presented with emphasis on their frequent orthopedic anomalies, i.e. hypoplastic toenai …
Distinct phenotype of PHF6 deletions in females.
Di Donato N, Isidor B, Lopez Cazaux S, Le Caignec C, Klink B, Kraus C, Schrock E, Hackmann K. Di Donato N, et al. Eur J Med Genet. 2014 Feb;57(2-3):85-9. doi: 10.1016/j.ejmg.2013.12.003. Epub 2013 Dec 28. Eur J Med Genet. 2014. PMID: 24380767
Mutations in PHF6 have been reported in individuals with Borjeson-Forssman-Lehmann syndrome, a condition present almost exclusively in males. Two very recent papers revealed de novo PHF6 defects in seven female patients with intellectual disability and a phenotype resembli …
Mutations in PHF6 have been reported in individuals with Borjeson-Forssman-Lehmann syndrome, a condition present almost exclusively i …
A novel mutation in SMOC1 and variable phenotypic expression in two patients with Waardenburg anophthalmia syndrome.
Jamshidi J, Abdollahi S, Ghaedi H, Alehabib E, Tafakhori A, Alinaghi S, Chapi M, Johari AH, Darvish H. Jamshidi J, et al. Eur J Med Genet. 2017 Nov;60(11):578-582. doi: 10.1016/j.ejmg.2017.08.006. Epub 2017 Aug 12. Eur J Med Genet. 2017. PMID: 28807869
Waardenburg anophthalmia syndrome (WAS) is a rare disorder that mostly affects the eyes and distal limbs. ...The first case was a 26-year-old girl with unilateral anophthalmia, bilateral camptodactyly and clinodactyly in her hands, oligodactly in her left foot and s …
Waardenburg anophthalmia syndrome (WAS) is a rare disorder that mostly affects the eyes and distal limbs. ...The first case was a 26- …
Unknown syndrome in two male sibs with hypotonia, ptosis, hand malformations, 2/3 toes syndactyly, and mental retardation.
Mégarbané A, Farah CB, Nabbout R. Mégarbané A, et al. Genet Couns. 1999;10(2):183-8. Genet Couns. 1999. PMID: 10422013
We report two brothers from nonconsanguineous parents who share hypotonia, ptosis, high arched palate, camptodactyly, fifth fingers clinodactyly, 2/3 toes syndactyly and psychomotor retardation. Differential diagnosis, such as the Ohdo syndrome, the Mo …
We report two brothers from nonconsanguineous parents who share hypotonia, ptosis, high arched palate, camptodactyly, fifth fingers …
A de novo 4.4-Mb microdeletion in 2p24.3 p24.2 in a girl with bilateral hearing impairment, microcephaly, digit abnormalities and Feingold syndrome.
Chen CP, Lin SP, Chern SR, Wu PS, Chang SD, Ng SH, Liu YP, Su JW, Wang W. Chen CP, et al. Eur J Med Genet. 2012 Nov;55(11):666-9. doi: 10.1016/j.ejmg.2012.07.003. Epub 2012 Jul 25. Eur J Med Genet. 2012. PMID: 22842076
We report a 26-month-old girl with profound hearing impairment, microcephaly, psychomotor retardation, short palpebral fissures, hypertelorism, epicanthic folds, a broad nasal bridge, anteverted nostrils, large low-set ears, micrognathia, brachymesophalangy of the second and the …
We report a 26-month-old girl with profound hearing impairment, microcephaly, psychomotor retardation, short palpebral fissures, hypertelori …
Feingold syndome: a rare but important cause of syndromic tracheoesophageal fistula.
Layman-Pleet L, Jackson CC, Chou S, Boycott KM. Layman-Pleet L, et al. J Pediatr Surg. 2007 Sep;42(9):E1-3. doi: 10.1016/j.jpedsurg.2007.06.005. J Pediatr Surg. 2007. PMID: 17848225
Esophageal atresia (EA) and tracheoesophageal fistula (TEF) are common congenital malformations and are associated with additional anomalies in approximately half of cases. Feingold syndrome is an important genetic cause of syndromic EA-TEF to consider in patients w …
Esophageal atresia (EA) and tracheoesophageal fistula (TEF) are common congenital malformations and are associated with additional anomalies …