Results 41 to 50 of about 848 (140)
PRENATAL DIAGNOSIS OF ROBERT/SC SYNDROME IN A DIABETIC MOTHER WITH A HISTORY OF MEBENDAZOLE AND GLIBENCLAMIDE INTAKE [PDF]
Acta Medica Iranica, 2003 The Robert/SC (pseudothalidomide) syndrome is a rare autosomal recessive disorder, associated with phocomelia and craniofacial abnormalities. An anomalous fetus with lower limb phocomelia and micromelia, lumbar myeloschisis, upper limb and ribs defects ...
M. Pourissa, S. Refahi N. Garaaghagi
doaj +2 more sources
A calf with ectrodactyly and micromelia: a case report [PDF]
Eurasian Journal of Veterinary SciencesIn this case report, a male cross-breed calf with ectrodactyly and micromelia malformation has been described individually,environment and genetic factors or both may effect congenital malformation in ruminants.
Fahrettin Alkan +3 more
doaj
American Journal of Human Biology, Volume 38, Issue 2, February 2026.ABSTRACT Objective To characterize the metacarpophalangeal pattern profile (MCPP) of healthy children and adolescents from São Paulo, Brazil, and to establish percentile curves by chronological age (CA), bone age (BA), and sex using the LMS method. Additionally, to compare these findings with previous population‐based data and to apply the derived ...
Marcelo Damaso Maruichi +4 more
wiley +1 more source
Gaceta Médica de MéxicoAntecedentes: La displasia tanatofórica (DT) es una condrodisplasia FGFR3 letal, caracterizada por micromelia y fémures arqueados (DT1), o por fémures rectos y cráneo treboliforme (DT2).
Jessica P. Cruz-Cruz +8 more
doaj +1 more source
CDG due to Defective Membrane Transporters: Update
Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.ABSTRACT Congenital disorders of glycosylation are genetic defects in the glycoprotein and glycolipid glycan assembly and attachment. Some 200 CDG have been reported since the first clinical description in 1980. Most CDG are enzymatic deficiencies, but 13 (6.5%) are defects in the ER, Golgi apparatus (GA), and plasma membrane transporters.
D. Quelhas, C. R. Ferreira, J. Jaeken
wiley +1 more source
Cellular and Matrix Changes in Articular Cartilage of the Disproportionate micromelia Mouse Model of Osteoarthritis [PDF]
, 2008 Osteoarthritis (OA) is a degenerative joint disease that affects more than 60% of Americans 65 and older. Because human subjects and samples are not readily available for research, animal models are an invaluable resource for the study of OA ...
Smaldone, Crystal Noelle
core
, 2017 While next-generation sequencing has accelerated the discovery of human disease genes, progress has been largely limited to the “low hanging fruit” of mutations with obvious exonic coding or canonical splice site impact.
Jillian M. Richardson +33 more
core +1 more source
Thanatophoric dysplasia: Antenatal to postmortem
Journal of the Scientific Society, 2015 Thanatophoric dwarfism (TD), literally meaning death seeking dwarf, is the most common form of lethal bone dysplasia characterized by severe micromelia, extra folds of skin and narrow chest.
Chanabasappa V Chavadi +4 more
doaj +1 more source
, 1997 l-Azetidine-2-carboxylic acid (LACA), a naturally occurring vegetable imino acid, can be incorporated into mammalian proteins in place of proline, thereby eliciting an inhibitory effect on collagen secretion.
Frenz, Dorothy +7 more
core +1 more source
A case report of prenatally detected achondrogenesis type II with an occipital cephalocele
Asian Pacific Journal of Reproduction, 2017 Achondrogenesis is a very rare lethal skeletal disorder. Here we describe a case of prenatally diagnosed achondrogenesis type II in a 28 year-old woman at (17+4) wk. She had history of 5 first trimester missed abortions.
Behnaz Moradi +3 more
doaj +1 more source