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Aplasia of the 3rd metacarpal

MedGen UID:
869660
Concept ID:
C4024088
Finding
Synonym: Absent 3rd long bone of hand
 
HPO: HP:0010040

Definition

Absence of the third long bone of the hand. [from HPO]

Conditions with this feature

Ulnar-mammary syndrome
MedGen UID:
357886
Concept ID:
C1866994
Disease or Syndrome
Ulnar-mammary syndrome (UMS) is an autosomal dominant disorder characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and/or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies (Bamshad et al., 1996).

Recent clinical studies

Etiology

Mohammed Ali MH
Surg Radiol Anat 2009 Nov;31(9):665-74. Epub 2009 Apr 8 doi: 10.1007/s00276-009-0500-4. PMID: 19352583
Sükür M, Darendeliler F, Bundak R, Baş F, Saka N, Günöz H
Ann Hum Biol 1997 Jul-Aug;24(4):371-5. doi: 10.1080/03014469700005122. PMID: 9239443

Diagnosis

Kaniewska M, Haefeli M, Laesser U, Niemann T
J Radiol Case Rep 2017 Jul;11(7):14-19. Epub 2017 Jul 31 doi: 10.3941/jrcr.v11i7.2877. PMID: 29299098Free PMC Article
Tülay Koca T, Çiledağ Özdemir F
Eur Rev Med Pharmacol Sci 2015 Dec;19(23):4549-52. PMID: 26698251
Nishida K, Hashizume H, Matsukawa A, Hashizume K, Shimamura Y, Torigoe Y, Ozaki T
Acta Med Okayama 2013;67(5):311-7. doi: 10.18926/AMO/51867. PMID: 24145731
Elejalde BR, de Elejalde MM
Am J Med Genet 1985 Dec;22(4):669-83. doi: 10.1002/ajmg.1320220404. PMID: 4073120

Therapy

Pfeiffer RA, Santelmann R
Birth Defects Orig Artic Ser 1977;13(1):319-37. PMID: 322750

Clinical prediction guides

Tülay Koca T, Çiledağ Özdemir F
Eur Rev Med Pharmacol Sci 2015 Dec;19(23):4549-52. PMID: 26698251
Pfeiffer RA, Santelmann R
Birth Defects Orig Artic Ser 1977;13(1):319-37. PMID: 322750

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