China
Africa
Explore chapters and articles related to this topic
Basic genetics and patterns of inheritance
Published in Hung N. Winn, Frank A. Chervenak, Roberto Romero, Clinical Maternal-Fetal Medicine Online, 2021
Once a couple has had a child with a multifactorial condition, the risk of having a second child with the same disorder is increased over the background population risk. Recurrence risk figures can be estimated for a given defect based on population studies. For example, the incidence of cleft lip with or without cleft palate is 1 in 700 to 1 in 1000 newborns. This risk increases to approximately 4% or 1 in 25 after a family has had one child with cleft lip, representing a 40-fold increased risk. However, the risk is still relatively small, with a 96% chance of having a normal child.
Craniofacial Regeneration—Bone
Published in Vincenzo Guarino, Marco Antonio Alvarez-Pérez, Current Advances in Oral and Craniofacial Tissue Engineering, 2020
Laura Guadalupe Hernandez, Lucia Pérez Sánchez, Rafael Hernández González, Janeth Serrano-Bello
Cleft lip with or without cleft palate (CLP) is among the most common birth defects caused by genetic and nongenetic factors. Several genes could be implicated in CLP; IFR6, TGF-A, TGF-B3 and MSX1 (Howard et al. 2008). Nongenetic factors may include, fetal environment, teratogenic exposures, placental factors and the health of the mother.
Compatibility of commonly used drugs in lactation
Published in Amy Brown, Wendy Jones, A Guide to Supporting Breastfeeding for the Medical Profession, 2019
Topiramate – only 9–17% protein-bound, and metabolism may be affected by other enzyme-inducing drugs, including other antiepileptic agents. It has been linked to cleft lip with or without cleft palate following first-trimester use (Margulis et al. 2012). Öhman et al. (2002) observed five babies at delivery and followed three of them through lactation. Two to three weeks after delivery two of the breastfed infants had detectable but unquantifiable levels of topiramate and one had an undetectable concentration; MP ratios of around 0.86 were determined and no adverse events were noted.
Critical roles of adherens junctions in diseases of the oral mucosa
Published in Tissue Barriers, 2023
Christina Kingsley, Antonis Kourtidis
Non-syndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common human birth defects. It is caused by the incorrect fusion of the lip or roof of the mouth in early development. Interestingly, three of the 10 alleles that were identified to have implications in NSCL/P are associated with proteins associated with E-cadherin and nectin complexes. More specifically, these three alleles are mutated variants of PLEKHA7, PLEKHA5, and of CTNND1, the gene that encodes p120 (Figure 2). It is thought that this dysregulation of the epithelial adhesion complex is a mechanism that is at least partly responsible for NSCL/P.99,100 Another recent genome association study also found an association between NSCL/P and several AJ-related genes, including CDH1, CTNND1, CTNNA1, ESRP1, ESRP2, PLEKHA5, and PLEKHA7.101 Corroborating these findings, experimental disruption of the nectin-afadin complex indeed results in cleft palate.100 Furthermore, missense mutations in E-cadherin are also believed to contribute to cleft lip and palate birth defects in some cases.102 Finally, aberrant Wnt signaling is also associated with non-NSCL/P.103,104
De novo frameshift mutation in YAP1 associated with bilateral uveal coloboma and microphthalmia
Published in Ophthalmic Genetics, 2022
Charles DeYoung, Bin Guan, Ehsan Ullah, Delphine Blain, Robert B. Hufnagel, Brian P. Brooks
The syndromic manifestations reported by Williamson et al. included sensorineural hearing loss, cleft lip with or without cleft palate, hematuria, and learning difficulties (21). It should be noted that a stillbirth had occurred in this family, described as an anencephalic baby with cleft lip and palate whose ocular status was unknown. Kingston et al. has raised the possibility of a neural tube defect being a part of this syndrome (24). Aside from a likely neural tube defect, our proband did not manifest any of these associated manifestations, though his hearing status and intellectual ability could not be ascertained. Also, the 13-member family described by Williamson et al. ranged in ages from age 5 to age 67 with most being adults, while our proband was only 1 at the time of evaluation (22).
A Comprehensive Assessment of Co-occurring Birth Defects among Infants with Non-Syndromic Anophthalmia or Microphthalmia
Published in Ophthalmic Epidemiology, 2021
Jeremy M. Schraw, Renata H. Benjamin, Daryl A. Scott, Brian P. Brooks, Robert B. Hufnagel, Scott D. McLean, Hope Northrup, Peter H. Langlois, Mark A. Canfield, Angela E. Scheuerle, Christian P. Schaaf, Joseph W. Ray, Han Chen, Michael D. Swartz, Laura E. Mitchell, A.J. Agopian, Philip J. Lupo
Case counts and O:Eadj ratios for the 25 combinations with the largest O:Eadj ratios are presented in table 2. Head and neck defects, including microcephaly, congenital hydrocephalus, and cleft lip with or without cleft palate were common co-occurring defects. We also observed multiple combinations involving the musculoskeletal system (e.g., with spinal or limb anomalies) and cardiac defects (e.g., with ventricular septal defect and/or ostium secundum type atrial septal defect). Four of the five combinations with the largest O:Eadj ratios involved “other anomalies of the nose” (BPA4 code 748.1), which includes absent or hypoplastic nose; proboscis; abnormalities of the nasal bridge, nasal septum, or sinus wall; cleft or bifid nose; or unspecified anomalies of the nose other than congenital deviation of the nasal septum. Results were similar when anophthalmia and microphthalmia were evaluated separately (data not shown).