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Unusual branchial arch, dermoepidermal and nervous system anomalies in a neonate with VACTERL-H syndrome [Anomalías inusuales del arco branquial, dermoepidérmicas y del sistema nervioso en un neonato con el síndrome VACTERL-H]
(2012)
VACTERL-H syndrome is a complex disorder of congenital malformations that implies vertebrae, anus, heart, trachea, esophagus, kidneys, limbs and hydrocephalus. Its etiology has been identified in a fraction of patients ...
A modified technique for treating swimmer puppy syndrome
(2018-01-01)
Swimmer puppy syndrome is an unusual anomaly that affects dogs within the first few days or months of life. This syndrome is characterised by the inability of the animal to maintain a quadrupedal position primarily using ...
Desafios clínicos e psicossociais no tratamento de um paciente com síndrome de Proteus
(2015-10-01)
Proteus syndrome is a rare combination of malformations that can affect several tissues and organs. It is characterized by bilateral macrodactyly, cranial hypertrophy, bone anomalies, scoliosis, soft-tissue hamartomas, ...
Holoprosencephaly and genitourinary anomalies in fetal methotrexate syndrome
(2010)
Prenatal exposure to methotrexate (MTX) in the first trimester may leadtofetal death, and surviving childrenhave increasedrisks for cranial dysostosis, dysmorphic facies, skeletal malformations, limb defects, growth ...
Holoprosencephaly and genitourinary anomalies in fetal methotrexate syndrome
(2010)
Prenatal exposure to methotrexate (MTX) in the first trimester may leadtofetal death, and surviving childrenhave increasedrisks for cranial dysostosis, dysmorphic facies, skeletal malformations, limb defects, growth ...
A non-coding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects
(Cell Press, 2014-01)
Richieri-Costa-Pereira syndrome is an autosomal-recessive acrofacial dysostosis characterized by mandibular median cleft associated with other craniofacial anomalies and severe limb defects. Learning and language disabilities ...
SED-brachydactyly and distinctive speech: Report of a new familial case
(2011-12-01)
Background: Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech (SED-BDS) is a syndrome characterized by short stature, disproportionately short limbs, peculiar face, thick and abundant hair, high-pitched and ...
SED-brachydactyly and distinctive speech: Report of a new familial case
(2011-12-01)
Background: Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech (SED-BDS) is a syndrome characterized by short stature, disproportionately short limbs, peculiar face, thick and abundant hair, high-pitched and ...