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Hypoplastic femurs and pelvis(HYPOFP)

MedGen UID:
1794203
•Concept ID:
C5561993
•
Congenital Abnormality
Synonym: HYPOFP
 
OMIM®: 619545

Definition

Hypoplastic femurs and pelvis (HYPOFP) is characterized by congenital isolated bilateral hypoplasia of the femoral and pelvic bones (Socha et al., 2021). [from OMIM]

Clinical features

From HPO
Short femur
MedGen UID:
87499
•Concept ID:
C0345375
•
Congenital Abnormality
An abnormal shortening of the femur.
See: Feature record | Search on this feature
Hypoplastic pelvis
MedGen UID:
760700
•Concept ID:
C3536734
•
Anatomical Abnormality
Underdevelopment of the bony pelvis.
See: Feature record | Search on this feature
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Recent clinical studies

Etiology

Society for Maternal-Fetal Medicine Consult Series #57: Evaluation and management of isolated soft ultrasound markers for aneuploidy in the second trimester: (Replaces Consults #10, Single umbilical artery, October 2010; #16, Isolated echogenic bowel diagnosed on second-trimester ultrasound, August 2011; #17, Evaluation and management of isolated renal pelviectasis on second-trimester ultrasound, December 2011; #25, Isolated fetal choroid plexus cysts, April 2013; #27, Isolated echogenic intracardiac focus, August 2013).
Society for Maternal-Fetal Medicine (SMFM). Electronic address: pubs@smfm.org, Prabhu M, Kuller JA, Biggio JR
Am J Obstet Gynecol 2021 Oct;225(4):B2-B15. Epub 2021 Jun 23 doi: 10.1016/j.ajog.2021.06.079. PMID: 34171388
Literature review and suggested protocol for managing ultrasound soft markers for Down syndrome: thickened nuchal fold, echogenic bowel, shortened femur, shortened humerus, pyelectasis and absent or hypoplastic nasal bone.
Bethune M
Australas Radiol 2007 Jun;51(3):218-25. doi: 10.1111/j.1440-1673.2007.01713.x. PMID: 17504311
Evidence for clonal disease by magnetic resonance imaging in patients with hypoplastic marrow disorders.
Negendank W, Weissman D, Bey TM, de Planque MM, Karanes C, Smith MR, Ratanatharathorn V, Bishop CR, al-Katib AM, Sensenbrenner LL
Blood 1991 Dec 1;78(11):2872-9. PMID: 1954375

Diagnosis

Bilateral hip dysplasia in a South African male: A case study from the 17-18th century.
Voegt C, Gunston G, Nortje M, Sealy JC, He L, le Roux P, Namayega C, Gibbon VE
Int J Paleopathol 2023 Sep;42:27-33. Epub 2023 Jul 30 doi: 10.1016/j.ijpp.2023.07.002. PMID: 37527585
Society for Maternal-Fetal Medicine Consult Series #57: Evaluation and management of isolated soft ultrasound markers for aneuploidy in the second trimester: (Replaces Consults #10, Single umbilical artery, October 2010; #16, Isolated echogenic bowel diagnosed on second-trimester ultrasound, August 2011; #17, Evaluation and management of isolated renal pelviectasis on second-trimester ultrasound, December 2011; #25, Isolated fetal choroid plexus cysts, April 2013; #27, Isolated echogenic intracardiac focus, August 2013).
Society for Maternal-Fetal Medicine (SMFM). Electronic address: pubs@smfm.org, Prabhu M, Kuller JA, Biggio JR
Am J Obstet Gynecol 2021 Oct;225(4):B2-B15. Epub 2021 Jun 23 doi: 10.1016/j.ajog.2021.06.079. PMID: 34171388
Ischial spine projection into the pelvis : a new sign for acetabular retroversion.
Kalberer F, Sierra RJ, Madan SS, Ganz R, Leunig M
Clin Orthop Relat Res 2008 Mar;466(3):677-83. Epub 2008 Feb 10 doi: 10.1007/s11999-007-0058-6. PMID: 18264856Free PMC Article
Literature review and suggested protocol for managing ultrasound soft markers for Down syndrome: thickened nuchal fold, echogenic bowel, shortened femur, shortened humerus, pyelectasis and absent or hypoplastic nasal bone.
Bethune M
Australas Radiol 2007 Jun;51(3):218-25. doi: 10.1111/j.1440-1673.2007.01713.x. PMID: 17504311
Evidence for clonal disease by magnetic resonance imaging in patients with hypoplastic marrow disorders.
Negendank W, Weissman D, Bey TM, de Planque MM, Karanes C, Smith MR, Ratanatharathorn V, Bishop CR, al-Katib AM, Sensenbrenner LL
Blood 1991 Dec 1;78(11):2872-9. PMID: 1954375

Prognosis

Ischial spine projection into the pelvis : a new sign for acetabular retroversion.
Kalberer F, Sierra RJ, Madan SS, Ganz R, Leunig M
Clin Orthop Relat Res 2008 Mar;466(3):677-83. Epub 2008 Feb 10 doi: 10.1007/s11999-007-0058-6. PMID: 18264856Free PMC Article

Clinical prediction guides

Ischial spine projection into the pelvis : a new sign for acetabular retroversion.
Kalberer F, Sierra RJ, Madan SS, Ganz R, Leunig M
Clin Orthop Relat Res 2008 Mar;466(3):677-83. Epub 2008 Feb 10 doi: 10.1007/s11999-007-0058-6. PMID: 18264856Free PMC Article

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