Congenital Anomalies Associated with Cleft Lip and Palate—An Analysis of 1623 Consecutive Patients

Sekhon, Prabhjot; Ethunandan, M.; Markus, A.F.; Krishnan, Gomathi; Rao, C.B.

doi:10.1597/09-264

Cited by 51 publications

(68 citation statements)

References 22 publications

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“…However, some syndromal cases of CL/P may be non chromosomal in etiology. [14] In this reported case, genetic studies of the baby were not undertaken as Amelia in combination with CL/P remains a very rare condition and to our knowledge, no established genetic abnormality has been identified for comparison.…”

Section: Discussionmentioning

confidence: 93%

Facial cleft with Amelia: A Nigerian case report

Benjamin

Adebayo²,

Mohammed

et al. 2013

Ann Afr Med

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Clefts of the lip and palate are the most common serious congenital anomalies in orofacial region. However, the occurrence of associated defects in the limbs is quite rare. This report presents a 12-week-old male child born with unilateral left cleft lip and palate, absence of the upper left arm and forearm, and fusion of both big and middle toes and absence of the entire small toe on the left foot. The repairs of lip and palate defects were done at 6 and 19 months of age while parents were referred for rehabilitation to ameliorate absence of upper left arm. We discuss the challenges of management of defects in a developing economy, issues of acceptance of children born with defects amenable to surgery and the benefit of parental education on the care of the child.

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Section: Discussionmentioning

confidence: 93%

Facial cleft with Amelia: A Nigerian case report

Benjamin

Adebayo²,

Mohammed

et al. 2013

Ann Afr Med

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“…The fact that both of these disorders present with CL/P highlights the indispensable role of SHH signaling during FNP growth and fusion (8,32). We recently reported 2 novel mouse lines, both of which exhibit craniofacial defects caused by either reduced (Hhat creface ) (18) (Figure 1, B and E).…”

Section: Disruption Of the Shh Signaling Gradient During Craniofacialmentioning

confidence: 98%

Disrupting hedgehog and WNT signaling interactions promotes cleft lip pathogenesis

Kurosaka¹,

Iulianella²,

Williams³

et al. 2014

J. Clin. Invest.

108

128

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Cleft lip, which results from impaired facial process growth and fusion, is one of the most common cranio facial birth defects. Many genes are known to be involved in the etiology of this disorder; however, our under standing of cleft lip pathogenesis remains incomplete. In the present study, we uncovered a role for sonic hedgehog (SHH) signaling during lip fusion. Mice carrying compound mutations in hedgehog acyltransferase (Hhat) and patched1 (Ptch1) exhibited perturbations in the SHH gradient during frontonasal development, which led to hypoplastic nasal process outgrowth, epithelial seam persistence, and cleft lip. Further investi gation revealed that enhanced SHH signaling restricts canonical WNT signaling in the lambdoidal region by promoting expression of genes encoding WNT inhibitors. Moreover, reduction of canonical WNT signaling perturbed p63/interferon regulatory factor 6 (p63/IRF6) signaling, resulting in increased proliferation and decreased cell death, which was followed by persistence of the epithelial seam and cleft lip. Consistent with our results, mutations in genes that disrupt SHH and WNT signaling have been identified in both mice and humans with cleft lip. Collectively, our data illustrate that altered SHH signaling contributes to the etiology and pathogenesis of cleft lip through antagonistic interactions with other gene regulatory networks, including the canonical WNT and p63/IRF6 signaling pathways.

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“…10 In another Indian study by P. S. Shekon showed the relative frequency of CHD in babies with facial cleft as 10%. 11 Twenty-six CHDs were diagnosed in 16 of 53 patients (30.2%): 5 Atrial Septal Defects, 9 Ventricular Septal Defects, 8 Patent Ductus Arteriosus, 2 Persistent Foramen Ovale, 1 Pulmonary Stenosis and 1 Single Ventricle.…”

Section: Relative Frequency Of Chd In Babies With Facial Cleftmentioning

confidence: 99%

Relative Frequency of Congenital Heart Diseases in Babies With Cleft Lip and/or Palate

Ravikumar¹,

Peedikayil²,

Jayapal³

2016

jemds

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Orofacial clefts are among the most common congenital anomalies. A significant number of patients with cleft palate have other associated malformations that may result in cardiac, limb or other system defects. Establishing a significant relationship of associated anomalies in cleft lip and cleft palate is important for several reasons. Firstly, this will improve screening and evaluation methods in departments dealing with cleft lip and palate and other craniofacial anomalies because of increased vigilance on the part of health care providers. Secondly, it will help provide optimal and comprehensive care, clear identification of problems will be made possible, proper consultations obtained and appropriate measures taken to manage the patient. Finally, corroboration of cleft lip and cleft palate with associated congenital anomalies may lead to a greater understanding of the embryonic phenomena underlying the malformation process in the future. This study assesses frequency of associated malformations in babies with cleft lip/palate. Babies with cleft lip/palate are prospectively enrolled in the study and analysed for occurrence of associated malformations. The relative frequency of congenital heart diseases is significantly high (30.2% of the study group and it accounts for 69.5% of the associated anomalies). Hence, routine echocardiography of these babies is recommended for early diagnosis and appropriate care.

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Congenital Anomalies Associated with Cleft Lip and Palate—An Analysis of 1623 Consecutive Patients

Abstract: Associated anomalies are not uncommon in patients with cleft lip and/or palate, though the frequency varies with the cleft type and organ system affected.

Cited by 51 publications

References 22 publications

Facial cleft with Amelia: A Nigerian case report

Facial cleft with Amelia: A Nigerian case report

Disrupting hedgehog and WNT signaling interactions promotes cleft lip pathogenesis

Relative Frequency of Congenital Heart Diseases in Babies With Cleft Lip and/or Palate

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