A Cranio-Facial Dysmorphic Foetus; A New Syndrome?
نویسندگان
چکیده
منابع مشابه
A possible cranio-oro-facial phenotype in Cockayne syndrome
BACKGROUND Cockayne Syndrome CS (Type A - CSA; or CS Type I OMIM #216400) (Type B - CSB; or CS Type II OMIM #133540) is a rare autosomal recessive neurological disease caused by defects in DNA repair characterized by progressive cachectic dwarfism, progressive intellectual disability with cerebral leukodystrophy, microcephaly, progressive pigmentary retinopathy, sensorineural deafness photosens...
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Crouzon (1912), whose name has been given to the combination of developmental anomalies which he described as hereditary cranio-facial dysostosis, presented his first two cases to the Societe Medicale des H6pitals de Paris. The patients, a mother aged 29 years and her son aged 21 years, had a malformation of the cranial vault consisting of protrusion in the region of the bregma, widening transv...
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Williams Syndrome is a rare genetic disorder caused by a hemizygote micro-deletion mapped to the long arm of chromosome 7.The main symptoms are a distinctive facial appearance, psychomotor retardation with friendly behaviour and cardiovascular malformations. This case report describes the anomalies of the cranio-facial complex and the cephalometric aspects which are characteristic of this syndr...
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Ear of foetus showing flattening of upper margin. Ear of foetus showing flattening of upper margin.
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We report a new case of Rubinstein-Taybi syndrome with a hypoplastic right kidney, persistent pulmonary hypertension, and mitral valve regurgitation. Other pertinent features included broad thumbs, broad big toes, syndactyly of the third and fourth fingers bilaterally, beaked nose, broad columella of the nose, patent ductus arteriosus, and motor and mental retardation. The testes were descended...
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ژورنال
عنوان ژورنال: Journal of Nepal Paediatric Society
سال: 2013
ISSN: 1990-7982,1990-7974
DOI: 10.3126/jnps.v33i2.7672