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Aplasia of the distal phalanges of the hand

MedGen UID:
869744
•Concept ID:
C4024173
•
Finding
Synonyms: Absent distal phalanges of the hand; Absent outermost hand bone; Aplasia of outermost hand bone
 
HPO: HP:0009881

Professional guidelines

PubMed

The hand profile on de Lange syndrome: diagnostic criteria.
Halal F, Preus M
Am J Med Genet 1979;3(4):317-23. doi: 10.1002/ajmg.1320030402. PMID: 474631

Recent clinical studies

Etiology

The use of Integra® bilaminar dermal regeneration template in apert syndactyly reconstruction: a novel alternative to simplify care and improve outcomes.
Jung JJ, Woo AS, Borschel GH
J Plast Reconstr Aesthet Surg 2012 Jan;65(1):118-21. Epub 2011 Jul 19 doi: 10.1016/j.bjps.2011.06.033. PMID: 21775231
Turner syndrome phalangeal screening based on a two-stage linear regression concept.
Tiu CM, Liu TC, Hsieh CW, Niu DM, Chen JD, Jong TL
Pediatr Int 2009 Aug;51(4):453-9. doi: 10.1111/j.1442-200X.2008.02797.x. PMID: 19674357
The congenital trigger thumb: is release of the first annular pulley alone sufficient to resolve the triggering?
van Loveren M, van der Biezen JJ
Ann Plast Surg 2007 Mar;58(3):335-7. doi: 10.1097/01.sap.0000238336.30617.72. PMID: 17471142
Radiological hand involvement in systemic sclerosis.
Avouac J, Guerini H, Wipff J, Assous N, Chevrot A, Kahan A, Allanore Y
Ann Rheum Dis 2006 Aug;65(8):1088-92. Epub 2006 Jan 13 doi: 10.1136/ard.2005.044602. PMID: 16414976Free PMC Article
Symphalangism in children. Case report and review of the literature.
Letts M, Davidson D, Beaulé P
Clin Orthop Relat Res 1999 Sep;(366):178-85. PMID: 10627733

Diagnosis

Triphalangeal thump, thumb duplication, and syndactyly: The first case report in the literature.
Swed S, Nashwan AJ, Saleh HH, Chawa Y, Baria A, Etr A
Medicine (Baltimore) 2022 Oct 21;101(42):e31237. doi: 10.1097/MD.0000000000031237. PMID: 36281136Free PMC Article
Hypothesis: Symbrachydactyly.
Holmes LB, Nasri HZ
Am J Med Genet A 2022 Nov;188(11):3236-3241. Epub 2022 Sep 8 doi: 10.1002/ajmg.a.62941. PMID: 36073773
Radiological hand involvement in systemic sclerosis.
Avouac J, Guerini H, Wipff J, Assous N, Chevrot A, Kahan A, Allanore Y
Ann Rheum Dis 2006 Aug;65(8):1088-92. Epub 2006 Jan 13 doi: 10.1136/ard.2005.044602. PMID: 16414976Free PMC Article
Brachytelephalangy with sparing of the fifth distal phalanx: a feature highly suggestive of Keutel syndrome.
Miller SF
Pediatr Radiol 2003 Mar;33(3):186-9. Epub 2002 Dec 19 doi: 10.1007/s00247-002-0846-9. PMID: 12612818
Osteosclerosis of the phalanges in Werner syndrome.
Goto M, Kindynis P, Resnick D, Sartoris DJ
Radiology 1989 Sep;172(3):841-3. doi: 10.1148/radiology.172.3.2772198. PMID: 2772198

Therapy

The use of Integra® bilaminar dermal regeneration template in apert syndactyly reconstruction: a novel alternative to simplify care and improve outcomes.
Jung JJ, Woo AS, Borschel GH
J Plast Reconstr Aesthet Surg 2012 Jan;65(1):118-21. Epub 2011 Jul 19 doi: 10.1016/j.bjps.2011.06.033. PMID: 21775231

Prognosis

Long term follow-up of composite non-vascularized toe phalanx transfers for aphalangia.
Tonkin MA, Deva AK, Filan SL
J Hand Surg Br 2005 Oct;30(5):452-8. doi: 10.1016/j.jhsb.2005.06.001. PMID: 16029918
Symphalangism in children. Case report and review of the literature.
Letts M, Davidson D, Beaulé P
Clin Orthop Relat Res 1999 Sep;(366):178-85. PMID: 10627733
Proximal toe phalanx transplantation for bony stabilization and lengthening of partially aplastic digits.
Buck-Gramcko D, Pereira JA
Ann Chir Main Memb Super 1990;9(2):107-18. doi: 10.1016/s0753-9053(05)80487-9. PMID: 1695513

Clinical prediction guides

Vertical mandibular asymmetry and hand measurements in patients in growth: cross-sectional study.
De Stefano AA, Horodynski M, Bartolomucci M, Castellano M, Spota A, Galluccio G
Clin Ter 2024 May-Jun;175(3):117-127. doi: 10.7417/CT.2024.5052. PMID: 38767068
Modified Bilhaut-Cloquet Procedure for the Reconstruction of Wassel Type III Radial Polydactyly.
Du Z, Qiu X, Han D, Jiang H
J Pediatr Orthop 2022 Jul 1;42(6):e636-e640. Epub 2022 Mar 14 doi: 10.1097/BPO.0000000000002139. PMID: 35275893
A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: report of seven cases.
Kim OH, Nishimura G, Song HR, Matsui Y, Sakazume S, Yamada M, Narumi Y, Alanay Y, Unger S, Cho TJ, Park SS, Ikegawa S, Meinecke P, Superti-Furga A
Am J Med Genet A 2010 Apr;152A(4):875-85. doi: 10.1002/ajmg.a.33347. PMID: 20358597
An unusual case of polydactyly.
Biere SS, Lagarde SM, Wust AF, Steller EP
Orthopedics 2009 Apr;32(4) PMID: 19388603
Radiological hand involvement in systemic sclerosis.
Avouac J, Guerini H, Wipff J, Assous N, Chevrot A, Kahan A, Allanore Y
Ann Rheum Dis 2006 Aug;65(8):1088-92. Epub 2006 Jan 13 doi: 10.1136/ard.2005.044602. PMID: 16414976Free PMC Article

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