Results 131 to 140 of about 8,710,665 (375)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone +13 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1) is a rare autosomal recessive disorder caused by biallelic variants in TTC7A. GIDID1 is characterized by a broad clinical spectrum ranging from very early‐onset inflammatory bowel disease (VEOIBD) to multiple intestinal atresia (MIA) with or without immunological manifestations.
Julia Imhoff +8 more
wiley +1 more source
Twinning rate trend in a population sample from the city of São Paulo, Brazil
Genetics and Molecular Biology, 2003 A retrospective study was carried out on a sample consisting of 89,491 deliveries occurred from 1979 through 1998, in the city of São Paulo, SP, Brazil. These deliveries included 935 twin and 26 triplet births. The mean incidence per 1,000 deliveries was
Gloria M.D.D. Colletto
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cousin syndrome is a rare skeletal dysplasia characterized by distinctive facial features, humeroradial synostosis, and hypoplasia of the ilia and scapula. Since the original description of the phenotype in two cases by Cousin in 1982, only three additional cases have been published.
Suzanne E. L. Detiger +3 more
wiley +1 more source
Neurological assessment of gestational age in newborn. [PDF]
, 1969 Victor Dubowitz
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Poland Anomaly and Atretic Cephalocele in the Same Child: Coincidence or Association?
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Poland Anomaly is a rare congenital disorder typically characterized by hypoplasia or agenesis of pectoral muscle with or without ipsilateral limb hypoplasia. The association of central nervous system malformation with Poland Anomaly has been rarely reported and includes craniofacial dysplasia, microcephaly, and Dandy‐Walker malformation ...
Alessandra Greta Grassi +5 more
wiley +1 more source
NUTRITION IN SMALL FOR GESTATIONAL AGE INFANTS (SGA): IN VIVO MEASUREMENTS OF BONE MINERALIZATION [PDF]
, 1977 Stephen D. Minton +2 more
openalex +1 more source
Trisomy 5p: Long Recognized, Rarely Published‐ Three New Cases and Review of the Literature
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Complete trisomy 5p is a rare chromosomal disorder caused by a duplication of the short arm of chromosome 5. Current data suggest that complete trisomy 5p presents as a distinct clinical syndrome including but not limited to seizures, developmental delays, facial dysmorphisms, failure to thrive, and recurrent respiratory infections.
Gabriela J. Kim +2 more
wiley +1 more source
EFFECT OF GESTATIONAL AGE ON THE UTILIZATION OF INTRAVENOUS AMINO ACIDS IN THE FIRST WEEK OF LIFE [PDF]
, 1974 M. H. Bryan +4 more
openalex +1 more source