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Aplasia of the 2nd metacarpal

MedGen UID:
869662
•Concept ID:
C4024090
•
Finding
Synonym: Absent 2nd long bone of hand
 
HPO: HP:0010037

Definition

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

Recent clinical studies

Etiology

Metacarpophalangeal pattern profile and bone age in Rett syndrome: further radiological clues to the diagnosis.
Leonard H, Thomson M, Glasson E, Fyfe S, Leonard S, Ellaway C, Christodoulou J, Bower C
Am J Med Genet 1999 Mar 12;83(2):88-95. doi: 10.1002/(sici)1096-8628(19990312)83:2<88::aid-ajmg3>3.0.co;2-7. PMID: 10190478
Stringent delineation of Pallister-Hall syndrome in two long surviving patients: importance of radiological anomalies of the hands.
Verloes A, David A, Ngô L, Bottani A
J Med Genet 1995 Aug;32(8):605-11. doi: 10.1136/jmg.32.8.605. PMID: 7473651Free PMC Article

Diagnosis

The prenatal diagnosis and genetic counseling of chromosomal micro-duplication on 10q24.3 in a fetus: A case report and a brief review of the literature.
Lai S, Zhang X, Feng L, He M, Wang S
Medicine (Baltimore) 2020 Oct 16;99(42):e22533. doi: 10.1097/MD.0000000000022533. PMID: 33080687Free PMC Article
That's my STYLEoideum - Symptomatic os styloideum in an adolescent male.
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
Metacarpophalangeal pattern profile and bone age in Rett syndrome: further radiological clues to the diagnosis.
Leonard H, Thomson M, Glasson E, Fyfe S, Leonard S, Ellaway C, Christodoulou J, Bower C
Am J Med Genet 1999 Mar 12;83(2):88-95. doi: 10.1002/(sici)1096-8628(19990312)83:2<88::aid-ajmg3>3.0.co;2-7. PMID: 10190478
Stringent delineation of Pallister-Hall syndrome in two long surviving patients: importance of radiological anomalies of the hands.
Verloes A, David A, Ngô L, Bottani A
J Med Genet 1995 Aug;32(8):605-11. doi: 10.1136/jmg.32.8.605. PMID: 7473651Free PMC Article

Therapy

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

Prognosis

Stringent delineation of Pallister-Hall syndrome in two long surviving patients: importance of radiological anomalies of the hands.
Verloes A, David A, Ngô L, Bottani A
J Med Genet 1995 Aug;32(8):605-11. doi: 10.1136/jmg.32.8.605. PMID: 7473651Free PMC Article

Clinical prediction guides

Metacarpophalangeal pattern profile and bone age in Rett syndrome: further radiological clues to the diagnosis.
Leonard H, Thomson M, Glasson E, Fyfe S, Leonard S, Ellaway C, Christodoulou J, Bower C
Am J Med Genet 1999 Mar 12;83(2):88-95. doi: 10.1002/(sici)1096-8628(19990312)83:2<88::aid-ajmg3>3.0.co;2-7. PMID: 10190478
Stringent delineation of Pallister-Hall syndrome in two long surviving patients: importance of radiological anomalies of the hands.
Verloes A, David A, Ngô L, Bottani A
J Med Genet 1995 Aug;32(8):605-11. doi: 10.1136/jmg.32.8.605. PMID: 7473651Free PMC Article
Limb anomalies in chromosomal aberrations.
Pfeiffer RA, Santelmann R
Birth Defects Orig Artic Ser 1977;13(1):319-37. PMID: 322750

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