Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: A prenatal diagnosis report
نویسندگان
چکیده
1. Case description A 23-year-old nulliparous woman was referred for fetal level II sonography owing to abnormal ultrasound findings, including skeletal anomalies and oligohydramnios at 20 weeks of gestation. Detailed evaluation of the fetus was difficult due to the absence of amniotic fluid. Thus, we infused normal saline into the amniotic cavity after amniocentesis for fetal karyotyping and further genetic examination. Ultrasonography Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: A prenatal diagnosis report
منابع مشابه
Gene dosage of the transcription factor Fingerin (bHLHA9) affects digit development and links syndactyly to ectrodactyly.
Distal limb deformities are congenital malformations with phenotypic variability, genetic heterogeneity and complex inheritance. Among these, split-hand/foot malformation is an ectrodactyly with missing central fingers, yielding a lobster claw-like hand, which when combined with long-bone deficiency is defined as split-hand/foot malformation and long-bone deficiency (SHFLD) that is genetically ...
متن کاملJapanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex
BACKGROUND Limb malformations are rare disorders with high genetic heterogeneity. Although multiple genes/loci have been identified in limb malformations, underlying genetic factors still remain to be determined in most patients. METHODS This study consisted of 51 Japanese families with split-hand/foot malformation (SHFM), SHFM with long bone deficiency (SHFLD) usually affecting the tibia, or...
متن کاملDuplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion.
BACKGROUND Split-hand/foot malformation (SHFM)-also known as ectrodactyly-is a congenital disorder characterised by severe malformations of the distal limbs affecting the central rays of hands and/or feet. A distinct entity termed SHFLD presents with SHFM and long bone deficiency. Mouse models suggest that a defect of the central apical ectodermal ridge leads to the phenotype. Although six diff...
متن کاملEctrodactyly or Lobster Claw Syndrome ,
Split-hand/split-foot malformation is a rare limb malformation with median clefts of the hands and feet and aplasia/hypoplasia of the phalanges, metacarpals and metatarsals. When present as an isolated anomaly, it is usually inherited as an autosomal dominant form We report a case of autosomal dominant inheritance and discuss the antenatal diagnosis, genetic counseling and treatment for the mal...
متن کاملEctrodactyly/split hand feet malformation
Split-hand/split-foot malformation is a rare limb malformation with median clefts of the hands and feet and aplasia/hypoplasia of the phalanges, metacarpals and metatarsals. When present as an isolated anomaly, it is usually inherited as an autosomal dominant form. We report a case of autosomal recessive inheritance and discuss the antenatal diagnosis, genetic counseling and treatment for the m...
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