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Aplasia of the proximal phalanx of the 5th finger

MedGen UID:
870086
•Concept ID:
C4024517
•
Anatomical Abnormality
Synonyms: Absent innermost bone of little finger; Absent innermost bone of pinkie finger; Absent innermost bone of pinky finger
 
HPO: HP:0009225

Definition

Absence of the proximal phalanx of the little (5th) finger. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAplasia of the proximal phalanx of the 5th finger

Recent clinical studies

Etiology

Prenatal age-specific reference intervals for measuring all five digits of the fetal hand.
Tovbin J, Maymon R, Tovbin L, Dreazen E, Bukovsky I, Herman A
Ultrasound Obstet Gynecol 2002 Jun;19(6):583-7. doi: 10.1046/j.1469-0705.2002.00628.x. PMID: 12047538
Bone loss determined by quantitative ultrasonometry correlates inversely with disease activity in patients with endogenous glucocorticoid excess due to adrenal mass.
Tauchmanovà L, Rossi R, Nuzzo V, del Puente A, Esposito-del Puente A, Pizzi C, Fonderico F, Lupoli G, Lombardi G
Eur J Endocrinol 2001 Sep;145(3):241-7. doi: 10.1530/eje.0.1450241. PMID: 11517003

Diagnosis

How many phenotypes for the FBXO11 related disease? Report on a new patient with a tricho-rhino-phalangeal like phenotype.
Mégarbané A, Mehawej C, Mahfoud D, Chouery E, Devriendt K, Hijazi M, Ryu SW, Kim J, McNeill A
Eur J Med Genet 2024 Jun;69:104944. Epub 2024 Apr 26 doi: 10.1016/j.ejmg.2024.104944. PMID: 38679370

Prognosis

Bone loss determined by quantitative ultrasonometry correlates inversely with disease activity in patients with endogenous glucocorticoid excess due to adrenal mass.
Tauchmanovà L, Rossi R, Nuzzo V, del Puente A, Esposito-del Puente A, Pizzi C, Fonderico F, Lupoli G, Lombardi G
Eur J Endocrinol 2001 Sep;145(3):241-7. doi: 10.1530/eje.0.1450241. PMID: 11517003
A rare anomaly of abductor digiti minimi.
Sañudo JR, Mirapeix RM, Ferreira B
J Anat 1993 Jun;182 ( Pt 3)(Pt 3):439-42. PMID: 8226300Free PMC Article

Clinical prediction guides

Bone loss determined by quantitative ultrasonometry correlates inversely with disease activity in patients with endogenous glucocorticoid excess due to adrenal mass.
Tauchmanovà L, Rossi R, Nuzzo V, del Puente A, Esposito-del Puente A, Pizzi C, Fonderico F, Lupoli G, Lombardi G
Eur J Endocrinol 2001 Sep;145(3):241-7. doi: 10.1530/eje.0.1450241. PMID: 11517003
An unusual flexor of the fifth finger.
Carr ND, O'Callaghan JD, Vaughan R
Acta Anat (Basel) 1977;98(4):376-9. doi: 10.1159/000144816. PMID: 883484

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