Estudo de pacientes com fissuras lábio-palatinas com pais consanguíneos

Abstract

Cl eft lip and/or palate (CL/P) are the most common congenital anomalies of the face. CL/P are non-syndromic (CL/PNS) in about 70% of subjects. Aim:To describe clinical cases of non-syndromic CL/P (CL/PNS) associated with consanguinity, diagnosed at a reference hospital in Minas Gerais, Brazil, and to correlate these alterations with possible risk factors. Series and Methods:A retrospective study at a reference hospital for craniofacial deformities in Minas Gerais, Brazil from 2006 to 2009 based on data in medical records. Results:Of 246 CL/PNS cases diagnosed and treated at the institution, 15 (6.1%) were CL/PNS with reported first-degree consanguinity; 73.3% occurred in males. Four of 15 patients had complete right cleft palate and lip (CLP), 4 presented complete cleft palate and lip (right and left), 3 had complete unilateral left CLP, 3 had isolated cleft palate, and 1 presented cleft lip only. Among the risk factors, only three mothers reported smoking during pregnancy.Conclusions: CLP (unilateral or bilateral) were more frequent in the group with a history of firstdegree consanguinity; males predominated. Among the risk factors, only smoking was observed in three cases.

Craniofacial features of operated unilateral complete cleft lip and palate children: a case control study

“…The cleft lip and palate are the most common congenital facial malformations in newborns [1][2] . These changes can be divided into distinct groups: cleft lip, cleft lip and palate and cleft palate [2][3] .…”

“…These changes can be divided into distinct groups: cleft lip, cleft lip and palate and cleft palate [2][3] . The treatment of patients with cleft may begin soon after birth with the use of presurgical orthopedic apparatus, which the main objective is to assist the surgeon in cheiloplasty 4 (lip closure surgery, typically performed at 6 months of age) and palatoplasty 1 (closure of the palate surgery, usually performed after 12 months of age), although there are 171 clinical protocols for treating these patients 5 .…”

Fonoterapia intensiva em paciente com fissura de palato submucosa - relato de caso

“…A fissura de palato submucosa (FPS) é uma malformação craniofacial congênita 1 . A etiologia é multifatorial, pois engloba uma combinação de fatores ambientais, genéticos e epigenéticos 2,3 . O diagnóstico da FPS frequentemente é tardio, sendo que a falta de alerta para características anatômicas evidentes pode ser um dos motivos que o justificam 3 .…”

Association of MAPK4 and SOX1-OT gene polymorphisms with cleftlip palate in multiplex families: A genetic study

“…In contrast, 30% of clefts are syndromic and are associated with a few other deformities. 3,4 The etiology of (CLP) is very complicated because of the relevant congenital anomalies. 5 The etiology is polygenic and multifactorial, involving both genetic and environmental factors, 6 including heredity, consanguinity, fetal environment, demographic factors, other factors like drugs, vitamins, alcohol consumption and smoking during pregnancy, infections, diet, etc.…”