cobamamide and Cleft-Lip

cobamamide has been researched along with Cleft-Lip* in 1 studies

Other Studies

1 other study(ies) available for cobamamide and Cleft-Lip

Article	Year
Multiple congenital anomalies in two boys with mutation in HCFC1 and cobalamin disorder. European journal of medical genetics, 2015, Volume: 58, Issue:3 The cobalamin type C deficiency is a rare condition that results from impaired biosynthesis of both methylcobalamin (MeCbl) and adenosylcobalamin (AdoCbl). Hemizygous mutations of the HCFC1 gene explain the majority of clinically and biologically compatible cblC patients without MMACHC mutations (OMIM 309541). We report a family with two maternal half-brothers with multiple congenital anomalies and HCFC1 gene mutation in the second Kelch domain. Both presented with dysmorphic features (flat profile, cleft lip for one), increased nuchal translucency, prenatal onset microcephaly and hypospadias. Additionally to early onset intractable epilepsy and profound neurocognitive impairment, this familial observation suggests that HCFC1 gene should be considered in boys with midline malformations, even without proven cobalamin C deficiency. Topics: Abnormalities, Multiple; Carrier Proteins; Child, Preschool; Cleft Lip; Cobamides; Comparative Genomic Hybridization; Genetic Testing; Host Cell Factor C1; Humans; Karyotyping; Male; Mutation; Oxidoreductases; Vitamin B 12; Vitamin B 12 Deficiency	2015

Article

Year

Multiple congenital anomalies in two boys with mutation in HCFC1 and cobalamin disorder.

European journal of medical genetics, 2015, Volume: 58, Issue:3

The cobalamin type C deficiency is a rare condition that results from impaired biosynthesis of both methylcobalamin (MeCbl) and adenosylcobalamin (AdoCbl). Hemizygous mutations of the HCFC1 gene explain the majority of clinically and biologically compatible cblC patients without MMACHC mutations (OMIM 309541). We report a family with two maternal half-brothers with multiple congenital anomalies and HCFC1 gene mutation in the second Kelch domain. Both presented with dysmorphic features (flat profile, cleft lip for one), increased nuchal translucency, prenatal onset microcephaly and hypospadias. Additionally to early onset intractable epilepsy and profound neurocognitive impairment, this familial observation suggests that HCFC1 gene should be considered in boys with midline malformations, even without proven cobalamin C deficiency.

Topics: Abnormalities, Multiple; Carrier Proteins; Child, Preschool; Cleft Lip; Cobamides; Comparative Genomic Hybridization; Genetic Testing; Host Cell Factor C1; Humans; Karyotyping; Male; Mutation; Oxidoreductases; Vitamin B 12; Vitamin B 12 Deficiency

2015