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Amelia and terminal transverse hemimelia

MedGen UID:
400186
•Concept ID:
C1863014
•
Disease or Syndrome
Synonym: Amelia and Terminal Transverse Hemimelia
 
Monarch Initiative: MONDO:0007091
OMIM®: 104400

Clinical features

From HPO
Amelia
MedGen UID:
8014
•Concept ID:
C0002447
•
Congenital Abnormality
Congenital absence (aplasia) of one or more limbs.
See: Feature record | Search on this feature

Professional guidelines

PubMed

The child with terminal transverse partial hemimelia: a review of the literature on prosthetic management.
Sypniewski BL
Artif Limbs 1972 Spring;16(1):20-50. PMID: 4567370

Recent clinical studies

Etiology

Foetal fibular hemimelia with focal femoral deficiency following prenatal misoprostol use: A case report.
Pallavee P, Samal R, Begum J, Ghose S
J Obstet Gynaecol 2016 Aug;36(6):760-761. Epub 2016 Mar 16 doi: 10.3109/01443615.2016.1157152. PMID: 26979810
Lengthening of the midfoot in a case of lower-extremity hemimelia.
Kraus T, Zwick EB, Svehlik M, Linhart WE
J Am Podiatr Med Assoc 2011 Sep-Oct;101(5):456-61. doi: 10.7547/1010456. PMID: 21957279
Möbius sequence: further in vivo support for the subclavian artery supply disruption sequence.
St Charles S, DiMario FJ Jr, Grunnet ML
Am J Med Genet 1993 Aug 15;47(2):289-93. doi: 10.1002/ajmg.1320470230. PMID: 8213922
Familial recurrence of terminal transverse defects of the arm.
Pauli RM, Lebovitz RM, Meyer RD
Clin Genet 1985 Jun;27(6):555-63. doi: 10.1111/j.1399-0004.1985.tb02040.x. PMID: 4017277
Genetics and limb deficiencies.
Lenz W
Clin Orthop Relat Res 1980 May;(148):9-17. PMID: 7379414

Therapy

Foetal fibular hemimelia with focal femoral deficiency following prenatal misoprostol use: A case report.
Pallavee P, Samal R, Begum J, Ghose S
J Obstet Gynaecol 2016 Aug;36(6):760-761. Epub 2016 Mar 16 doi: 10.3109/01443615.2016.1157152. PMID: 26979810
Humeroradial synostosis, ulnar aplasia and oligodactyly, with contralateral amelia, in a child with prenatal cocaine exposure.
Marles SL, Reed M, Evans JA
Am J Med Genet A 2003 Jan 1;116A(1):85-9. doi: 10.1002/ajmg.a.10731. PMID: 12476458

Prognosis

Lengthening of the midfoot in a case of lower-extremity hemimelia.
Kraus T, Zwick EB, Svehlik M, Linhart WE
J Am Podiatr Med Assoc 2011 Sep-Oct;101(5):456-61. doi: 10.7547/1010456. PMID: 21957279

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