Síndrome orofaciodigital tipo I: expresión fenotípica variable / Oro-facial-digital syndrome type I: phenotypic variable expression
Arch. argent. pediatr
;
112(6): e242-e246, dic. 2014. ilus, tab
Article
in Spanish
| LILACS, BINACIS
| ID: lil-734313
RESUMEN
El síndrome orofaciodigital tipo I (OFD 1; OMIM #311200) es un trastorno del desarrollo transmitido como un rasgo dominante ligado al cromosoma X con letalidad en varones. Se asocia con manifestaciones clínicas a nivel oral, facial y digital. Se caracteriza, además, por la presencia de quistes de milia, hipotricosis y poliquistosis renal. Se presentan dos casos con diagnóstico clínico de síndrome orofaciodigital tipo I con cierta variabilidad fenotípica entre ellos.
ABSTRACT
Oral-facial-digital syndrome type 1 (OFD1; OMIM #311200) is a developmental disorder transmitted as an X-linked dominant condition with embryonic male lethality. It is associated with malformation of the oral cavity, face, and digits. Furthermore, it is characterized by the presence of milia, hypotrichosis and polycystic kidney disease. We present two cases with clinical diagnosis oforal-facial-digital syndrome type I with some phenotypic variability between them.
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Orofaciodigital Syndromes
/
Cysts
/
Ciliopathies
/
Miliaria
Limits:
Female
/
Humans
/
Infant
Language:
Spanish
Journal:
Arch. argent. pediatr
Journal subject:
Pediatrics
Year:
2014
Type:
Article
Affiliation country:
Argentina
Institution/Affiliation country:
Hospital Materno Neonatal/AR
/
Hospital San Roque/AR
/
Hospital de Niños Santísima Trinidad/AR
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