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Page 1
The Greig cephalopolysyndactyly syndrome.
Biesecker LG. Biesecker LG. Orphanet J Rare Dis. 2008 Apr 24;3:10. doi: 10.1186/1750-1172-3-10. Orphanet J Rare Dis. 2008. PMID: 18435847 Free PMC article. Review.
The polydactyly is most commonly preaxial of the feet and postaxial in the hands, with variable cutaneous syndactyly, but the limb findings vary significantly. Other low frequency findings include central nervous system (CNS) anomalies, hernias, and cognitive impair …
The polydactyly is most commonly preaxial of the feet and postaxial in the hands, with variable cutaneous syndactyly, but the …
Confirmation of genetic homogeneity of syndactyly type IV and triphalangeal thumb-polysyndactyly syndrome in a Chinese family and review of the literature.
Dai L, Guo H, Meng H, Zhang K, Hu H, Yao H, Bai Y. Dai L, et al. Eur J Pediatr. 2013 Nov;172(11):1467-73. doi: 10.1007/s00431-013-2071-y. Epub 2013 Jun 22. Eur J Pediatr. 2013. PMID: 23793141 Review.
Syndactyly type IV (SD4) is inherited in an autosomal dominant fashion and characterized by complete cutaneous syndactyly of all fingers accompanied with polydactyly. Triphalangeal thumb-polysyndactyly syndrome (TPTPS) consists of a triphalangeal thumb …
Syndactyly type IV (SD4) is inherited in an autosomal dominant fashion and characterized by complete cutaneous syndactyly …
Ectodermal Dysplasia-Syndactyly Syndrome with Toe-Only Minimal Syndactyly Due to a Novel Mutation in NECTIN4: A Case Report and Literature Review.
Rotunno R, Diociaiuti A, Dentici ML, Rinelli M, Callea M, Retrosi C, Zambruno G, Bellacchio E, El Hachem M. Rotunno R, et al. Genes (Basel). 2021 May 17;12(5):748. doi: 10.3390/genes12050748. Genes (Basel). 2021. PMID: 34067522 Free PMC article. Review.
Ectodermal dysplasia-syndactyly syndrome 1 (EDSS1) is characterized by cutaneous syndactyly of the toes and fingers and abnormalities of the hair and teeth, variably associated with nail dystrophy and palmoplantar keratoderma (PPK). ...The patient pres …
Ectodermal dysplasia-syndactyly syndrome 1 (EDSS1) is characterized by cutaneous syndactyly of the toes and fingers …
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, clinodac …
In addition to the clinical manifestations generally observed in "ring syndrome" cases such as growth retardation, short stature, microcepha …
A new form of long QT syndrome associated with syndactyly.
Marks ML, Whisler SL, Clericuzio C, Keating M. Marks ML, et al. J Am Coll Cardiol. 1995 Jan;25(1):59-64. doi: 10.1016/0735-1097(94)00318-k. J Am Coll Cardiol. 1995. PMID: 7798527 Free article. Review.
Syndactyly is a developmental disorder that causes webbing of the hands and feet. ...RESULTS: All patients had bilateral cutaneous syndactyly and were diagnosed with long QT syndrome within the 1st 2 years of life. ...
Syndactyly is a developmental disorder that causes webbing of the hands and feet. ...RESULTS: All patients had bilateral cutaneous …
Focal dermal hypoplasia: oral and dental findings.
Tejani Z, Batra P, Mason C, Atherton D. Tejani Z, et al. J Clin Pediatr Dent. 2005 Fall;30(1):67-72. doi: 10.17796/jcpd.30.1.q737147154231251. J Clin Pediatr Dent. 2005. PMID: 16302603 Free article. Review.
Focal Dermal Hypoplasia/Goltz Gorlin syndrome is a rare syndrome characterized by widespread dysplasia affecting tissues of mesodermal and ectodermal origin with cutaneous, osseous, ocular, oral and dental defects. Enamel hypoplasia is the most commonly reported dental man …
Focal Dermal Hypoplasia/Goltz Gorlin syndrome is a rare syndrome characterized by widespread dysplasia affecting tissues of mesodermal and e …
Are triphalangeal thumb-polysyndactyly syndrome (TPTPS) and tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome (THPTTS) identical? A father with TPTPS and his daughter with THPTTS in a Thai family.
Kantaputra PN, Chalidapong P. Kantaputra PN, et al. Am J Med Genet. 2000 Jul 17;93(2):126-31. doi: 10.1002/1096-8628(20000717)93:2<126::aid-ajmg9>3.0.co;2-s. Am J Med Genet. 2000. PMID: 10869115 Review.
We report on a Thai man who had triphalangeal thumb-polysyndactyly syndrome (TPTPS, MIM *190605) and his daughter who had tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome (THPTTS, MIM *188770). The father had polysyndactyly of triphalangeal thumbs, syndactyly o …
We report on a Thai man who had triphalangeal thumb-polysyndactyly syndrome (TPTPS, MIM *190605) and his daughter who had tibial hemimelia-p …
De novo translocation (2;18)(q21;q22) in a child with severe epilepsy, developmental delay and mild dysmorphism.
Bal M, Schrander-Stumpel CT, Meers LE, Theunissen PM, Hamers AJ, Wennekes MJ, Engelen JJ. Bal M, et al. Genet Couns. 2000;11(3):221-7. Genet Couns. 2000. PMID: 11043430 Review.
De novo translocation (2;18)(q21;q22) in a patient with severe epilepsy developmental delay and mild dysmorphism: We report on a patient presenting with severe epilepsy, hypotonia, developmental delay, blepharophimosis, low-set ears, camptodactyly and tapering fingers, and …
De novo translocation (2;18)(q21;q22) in a patient with severe epilepsy developmental delay and mild dysmorphism: We report on a patient pre …
On the nosology of the craniodigital syndromes: report of a family and review of the literature.
Soekarman D, Volcke P, Fryns JP. Soekarman D, et al. Genet Couns. 1997;8(3):217-22. Genet Couns. 1997. PMID: 9327265 Review.
During a systematic survey for genetic causes of mental retardation in schools for adolescents with learning problems we had the occasion to examine a 16-year-old moderately mentally retarded boy with facial dysmorphism, short stature, relative microcephaly, complete cutaneous …
During a systematic survey for genetic causes of mental retardation in schools for adolescents with learning problems we had the occasion to …
Multiple malformations in a male and maternal osteopathia strata with cranial sclerosis (OSCS).
Rott HD, Krieg P, Rütschle H, Kraus C. Rott HD, et al. Genet Couns. 2003;14(3):281-8. Genet Couns. 2003. PMID: 14577672 Review.
He was affected by cranial sclerosis with frontal bossing, conductive hearing impairment, cleft palate, thoracic dysplasia, mesenterium commune with non-rotation of the gut, anal atresia, bilateral cutaneous syndactyly of 3rd and 4th fingers, duplication of t …
He was affected by cranial sclerosis with frontal bossing, conductive hearing impairment, cleft palate, thoracic dysplasia, mesenterium comm …