Etiology and genetic factors in clefts of lip and/or palate reported at children′s hospital, Lahore, Pakistan

Abstract

The etiology of cleft lip (CL) and/or cleft palate (CP) has been extensively studied in industrialized countries and is suggested to be heterogeneous with increasing evidence that both genetic and environmental factors are operating. To evaluate this assertion in a developing country like Pakistan, a case finding cross-sectional study was completed from 1st July 2010 to 31st May 2011 for 100 cases of CL and/or CP referred to the Genetic Clinic of the Children’s Hospital, Lahore, Pakistan. A clinical examination followed by necessary diagnostic work-up was completed for each case. The cause of CL and/or CP was clear in 18% of the children (n = 18). Environmental causes were found in 6 children (four mothers developed hyperthermia during the 2nd month of gestation, one mother was diabetic, and one mother was a known case of epilepsy and took sodium valproate throughout her pregnancy). Six children were suffering from known genetic malformation syndromes (each with Jarcho-Levin syndrome, Oral-Facial-Digital syndrome type XI, Oral-Duplication syndrome, Kabuki syndrome, Fronto-nasal dysplasia and Nager syndrome). Novel chromosomal aberrations were identified in 2 children. In 82% of the children (n = 82) the cause of oro-facial clefts remained unknown. Impact of gender and consanguinity on the development of CL and/or CP was also studied. Prevalence of CP was significantly more among female children as compared to that in males (P < 0.05). Associated anomalies were present in 18% of the cases, anomalies of the craniofacial region being the most common. These findings were compared with regional and international studies.

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“…As for the adverse events occurring in infants, one infant was diagnosed with congenital cleft lip and palate; the incidence of congenital cleft lip and palate was 1.8% in China, which was related closely to environmental and psychological factors besides genetic ones, the fetus lip and palate development was arrested temporarily, and it usually occurred in the fetus within 12 weeks. 22 Another infant died from pulmonary hemorrhage, was actually a premature and low in birth weight. The causal relationship between the 2 cases treated with telbivudine has not yet been elucidated fully.…”

Anatomical patterns of cleft lip and palate deformities among neonates in Mekelle, Tigray, Ethiopia; implication of environmental impact

“…The male: female ratio for CL, CP and CL/P in our study was 1:1.19, 1:0.5 and 1:0.86, respectively, revealing a higher occurrence of CP and CL/P among males than females while the female to male ratio in CL was higher. In contrast, more females were reported to have CP than males in Addis Ababa [5,18] and Lahore, Pakistan [25]. A higher prevalence of milder CP was found in males as opposed to more severe forms in which females were more prevalent in a Japanese study [26].…”

The effects of Y-shaped conchal cartilage transplantation on the correction of nasal deformity secondary to cleft lip and its influence on mental health

“…There are many pathogenic factors for cleft lip, including the following: i) Endocrine factors: Abnormal hormone secretion or adverse drug effects lead to excessive hormone levels in the body. For example, excess adrenaline, or long-term use of dexamethasone or other drugs are likely to lead to the occurrence of cleft lip ( 8 ); ii) infection of pregnant women: Viral infection that occurs in the mother's body in the first trimester of pregnancy, such as the pestivirus infection, may cause fetal malformations, thus forming the cleft lip ( 9 ); iii) nutrition factors: Nutritional deficiency in the mother's body during pregnancy, especially the lack of vitamins, folic acid and pantothenic acid, can also lead to cleft lip; iv) chemical and physical factors: During the first trimester of pregnancy, if pregnant women take certain drugs that result in adverse side effects, have frequent exposure to radiation, microwaves or other harmful physical interference, or drink alcohol or smoke, the risk of malformations such as cleft lip is increased ( 10 ); and v) genetic factors: If parents or other relatives suffer from cleft lip, the fetus may also suffer from the cleft lip due to genetic factors ( 11 ). There are also numerous reasons for nasal deformity secondary to cleft lip, including mainly: i) Affected by cleft lip, the existing tissue will suffer from shift or hypoplasia, causing nasal alar cartilage distortion and nasal deformity; ii) after corrective surgery for cleft lip, the subsequent growth and development may also cause secondary nasal deformity depending on the age at the time of operation; and iii) other factors, such as the training level of surgeons and different surgical procedures, may also cause an increased risk of secondary nasal deformity, so the stage-II repair is recommended for patients to ameliorate this risk ( 12 , 13 ).…”