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Unusual dermatoglyphics

MedGen UID:
870401
•Concept ID:
C4024846
•
Anatomical Abnormality
HPO: HP:0007560

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVUnusual dermatoglyphics

Conditions with this feature

Brachmann-de Lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay
MedGen UID:
396307
•Concept ID:
C1862171
•
Disease or Syndrome
See: Condition Record
Brachmann-de Lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay

Professional guidelines

PubMed

Diagnosis and Management of Hip Dislocation in Patients with Kabuki Syndrome.
Lim C, Jung ST, Shin CH, Park MS, Yoo WJ, Chung CY, Choi IH, Ko JM, Cho TJ
Clin Orthop Surg 2019 Dec;11(4):474-481. Epub 2019 Nov 12 doi: 10.4055/cios.2019.11.4.474. PMID: 31788172Free PMC Article

Recent clinical studies

Etiology

Genome-wide screening using array-CGH does not reveal microdeletions/microduplications in children with Kabuki syndrome.
Schoumans J, Nordgren A, Ruivenkamp C, Brøndum-Nielsen K, Teh BT, Annéren G, Holmberg E, Nordenskjöld M, Anderlid BM
Eur J Hum Genet 2005 Feb;13(2):260-3. doi: 10.1038/sj.ejhg.5201309. PMID: 15494738
The clinical significance of multiple hair whorls and their association with unusual dermatoglyphics and dysmorphic features in mentally retarded Israeli children.
Tirosh E, Jaffe M, Dar H
Eur J Pediatr 1987 Nov;146(6):568-70. doi: 10.1007/BF02467355. PMID: 3428291
Observations in a case of an X/Y translocation, t(X;Y)(p22;q11), in a mother and son.
Pfeiffer RA
Cytogenet Cell Genet 1980;26(2-4):150-7. doi: 10.1159/000131436. PMID: 7389410

Diagnosis

Genome-wide screening using array-CGH does not reveal microdeletions/microduplications in children with Kabuki syndrome.
Schoumans J, Nordgren A, Ruivenkamp C, Brøndum-Nielsen K, Teh BT, Annéren G, Holmberg E, Nordenskjöld M, Anderlid BM
Eur J Hum Genet 2005 Feb;13(2):260-3. doi: 10.1038/sj.ejhg.5201309. PMID: 15494738
Arachnodactyly and unusual dermatoglyphics: study of a case.
Krush AJ, Schaumann BA, Youssoufian H
Am J Med Genet 1988 Sep;31(1):57-62. doi: 10.1002/ajmg.1320310109. PMID: 3223499
Dermatoglyphic patterns in trisomy 8 syndrome.
Rodewald A, Zankl H, Wischerath H, Borkowsky-Fehr B
Clin Genet 1977 Jul;12(1):28-38. doi: 10.1111/j.1399-0004.1977.tb00897.x. PMID: 891006

Prognosis

Month-of-birth distribution of diabetics and ovopathy: a new aetiological view.
Jongbloet PH, van Soestbergen M, van der Veen EA
Diabetes Res 1988 Oct;9(2):51-8. PMID: 3246128

Clinical prediction guides

Observations in a case of an X/Y translocation, t(X;Y)(p22;q11), in a mother and son.
Pfeiffer RA
Cytogenet Cell Genet 1980;26(2-4):150-7. doi: 10.1159/000131436. PMID: 7389410
The trisomy 9p syndrome.
Centerwall WR, Beatty-DeSana JW
Pediatrics 1975 Nov;56(5):748-55. PMID: 1196731
Unusual dermatoglyphic findings associated with cytomegalic inclusion disease of infancy. A first report and practical review.
Wright HT Jr, Parker CE, Mavalwala J
Calif Med 1972 Mar;116(3):14-20. PMID: 4335498Free PMC Article

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