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In questa pagina puoi ottenere un'analisi dettagliata di una parola o frase, prodotta utilizzando la migliore tecnologia di intelligenza artificiale fino ad oggi:
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- esempi di utilizzo (varie frasi con traduzione)
- etimologia
Cosa (chi) è dysplasia oculodentodigitalis syndrome - definizione
DEVELOPMENTAL MALFORMATION SYNDROME CHARACTERIZED BY CRANIOFACIAL ABNORMALITIES, CONGENITAL HEART DEFECTS, AND CEREBELLAR BRAIN MALFORMATIONS.
Craniocerebellocardiac dysplasia; CCC dysplasia; Ritscher schinzel syndrome; 3c syndrome; Ritscher-Schinzel syndrome
Renal dysplasia-limb defects syndrome
MEDICAL CONDITION
Ulbright Hodes syndrome; Renal dysplasia mesomelia radiohumeral fusion; RL syndrome; Renal dysplasia limb defects; Ulbright-Hodes syndrome; Ulbright–Hodes syndrome
Renal dysplasia-limb defects syndrome (RL syndrome), also known as Ulbright–Hodes syndrome, is a very rare autosomal recessive congenital disorder. It has been described in three infants, all of whom died shortly after birth.
Oculodentodigital dysplasia
SYNDROME CHARACTERIZED BY CRANIOFACIAL, NEUROLOGIC, LIMB AND OCULAR ABNORMALITIES
ODDD; Oddd; Oculo-dento-digital syndrome; Oculodentodigital syndrome; Oculo dento digital dysplasia; Oculodentodigital dysplasia dominant; Oculodentoosseous dysplasia; ODD syndrome
Oculodentodigital syndrome (ODD syndrome) is an extremely rare genetic condition that typically results in small eyes, underdeveloped teeth, and syndactyly and malformation of the fourth and fifth fingers. It is considered a kind of ectodermal dysplasia.
Branchio-oto-renal syndrome
AUTOSOMAL DOMINANT GENETIC DISORDER INVOLVING THE KIDNEYS, EARS, AND NECK
Branchiootorenal syndrome; Bor syndrome; Branchio-Oto-Renal Syndrome; BOR syndrome; Melnick-Fraser syndrome; Branchiootorenal dysplasia
Branchio-oto-renal syndrome (BOR) is an autosomal dominant genetic disorder involving the kidneys, ears, and neck. It often has also been described as Melnick-Fraser syndrome.
Wikipedia
3C syndrome
3C syndrome is a rare condition whose symptoms include heart defects, cerebellar hypoplasia, and cranial dysmorphism. It was first described in the medical literature in 1987 by Ritscher and Schinzel, for whom the disorder is sometimes named.
