A Case Report of Fetal Split Hand Foot Malformation Syndrome: A Rare Congenital Limb Anomaly
Abstract: Fetal split hand foot malformation (SHFM) syndrome is a rare congenital disorder characterized by developmental abnormalities of fingers and/or toes, resulting in a split appearance. SHFM is sporadic and shows mainly autosomal dominant inheritance with variable clinical presentation. Prenatal diagnosis plays a crucial role in the management and in counseling of affected families. In this case report, we present the diagnosis of SHFM through ultrasound imaging and genetic testing in a primigravida, along with post abortal fetal findings. The aim was to highlight the importance of early detection during routine ultrasound and genetic counseling for appropriate understanding and management of this rare limb condition.
- Location
-
Deutsche Nationalbibliothek Frankfurt am Main
- Extent
-
Online-Ressource
- Language
-
Englisch
- Bibliographic citation
-
A Case Report of Fetal Split Hand Foot Malformation Syndrome: A Rare Congenital Limb Anomaly ; day:12 ; month:08 ; year:2024
Journal of fetal medicine ; (12.08.2024)
- Contributor
-
Roy, Prasanna
Dey, Shankar
- DOI
-
10.1055/s-0044-1788809
- URN
-
urn:nbn:de:101:1-2409261104044.429153592827
- Rights
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
-
15.08.2025, 7:33 AM CEST
Data provider
This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Roy, Prasanna
- Dey, Shankar
Other Objects (12)
Split hand-split foot malformation : determining the frequency of genomic aberrations with molecular-genetic methods
Split hand/foot malformation type 1 associated with 7q21.3 deletion - a case report
Discontinuous microduplications at chromosome 10q24.31 identified in a Chinese family with split hand and foot malformation
Identification of a novel heterozygous missense TP63 variant in a Chinese pedigree with split-hand/foot malformation
Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families
Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families
Limb Body Wall Complex: A Rare Anomaly
A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation
Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature
Surgical treatment of brainstem cavernous malformation with concomitant developmental venous anomaly
Sciatic neuropathy following endovascular treatment of a limb vascular malformation
Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex
Split hand-split foot malformation : determining the frequency of genomic aberrations with molecular-genetic methods
Split hand/foot malformation type 1 associated with 7q21.3 deletion - a case report
Discontinuous microduplications at chromosome 10q24.31 identified in a Chinese family with split hand and foot malformation
Identification of a novel heterozygous missense TP63 variant in a Chinese pedigree with split-hand/foot malformation
Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families
Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families
Limb Body Wall Complex: A Rare Anomaly
A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation
Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature
Surgical treatment of brainstem cavernous malformation with concomitant developmental venous anomaly
Sciatic neuropathy following endovascular treatment of a limb vascular malformation
Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex
Split hand-split foot malformation : determining the frequency of genomic aberrations with molecular-genetic methods
Split hand/foot malformation type 1 associated with 7q21.3 deletion - a case report
Discontinuous microduplications at chromosome 10q24.31 identified in a Chinese family with split hand and foot malformation
Identification of a novel heterozygous missense TP63 variant in a Chinese pedigree with split-hand/foot malformation
Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families
Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families
Limb Body Wall Complex: A Rare Anomaly
A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation
Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature
Surgical treatment of brainstem cavernous malformation with concomitant developmental venous anomaly
Sciatic neuropathy following endovascular treatment of a limb vascular malformation