scholarly journals Tetrasomy 9p Syndrome in a Filipino Infant

2020 ◽  
Vol 54 (4) ◽  
Author(s):  
Ebner Bon G. Maceda ◽  
Erena S. Kasahara ◽  
Edsel Allan G. Salonga ◽  
Myrian R. Dela Cruz ◽  
Leniza De Castro-Hamoy
Keyword(s):  
Chromosomal Abnormality ◽  
Congenital Anomalies ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Chromosomal Abnormalities ◽  
Chromosome 9 ◽  
Palpebral Fissure ◽  
Facial Features ◽  
Multiple Congenital Anomalies ◽  
Common Features

Tetrasomy 9p syndrome is a rare chromosomal abnormality syndrome whose most common features include hypertelorism, malformed ears, bulbous nose and microretrognathia. These features present as a result of an additional two copies of the short arm of chromosome 9. Here we present a neonate with characteristic facial features of hypertelorism, downslanted palpebral fissure, bulbous nose, small cupped ears, cleft lip and palate, and downturned corners of the mouth. Clinical features were consistent with the cytogenetic analysis of tetrasomy 9p. In general, clinicians are not as familiar with the features of tetrasomy 9p syndrome as that of more common chromosomal abnormalities like trisomies 13, 18, and 21. Hence, this case re-emphasizes the importance of doing the standard karyotyping for patients presenting with multiple congenital anomalies. Also, this is the first reported case of Tetrasomy 9p syndrome in Filipinos

scholarly journals Interhypothalamic Adhesion in a 9-Month-Old Male with Cleft Palate

2013 ◽  
Vol 2013 ◽  
pp. 1-4 ◽  
Author(s):  
Matthew T. Whitehead ◽  
Jacqueline D. S. Angel
Keyword(s):  
Cleft Palate ◽  
Congenital Anomalies ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Male Infant ◽  
Multiple Congenital Anomalies

A 9-month-old male infant with multiple congenital anomalies including cleft lip and palate was referred to us for a brain MR to exclude additional intracranial abnormalities. Imaging revealed an interhypothalamic adhesion, which we present as a possible forme fruste of holoprosencephaly.

Infants with Cleft Lip/Cleft Palate

1988 ◽  
Vol 9 (10) ◽  
pp. 331-334
Author(s):  
Lorraine Suslak ◽  
Franklin Desposito
Keyword(s):  
New York ◽  
Cleft Palate ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Chromosomal Abnormalities ◽  
Single Gene ◽  
Autosomal Recessive Inheritance ◽  
Racial Groups ◽  
Genetic Syndromes ◽  
Equal Distribution

A cleft of the lip and/or palate occurs approximately once in 750 live births with some variability among various racial groups. As an isolated defect, cleft lip with or without cleft palate is etiologically distinct from cleft palate alone. More than 250 clefting syndromes, most of them relatively uncommon, have been described. In 1970, less than 3% of all cases of cleft lip and/or palate were thought to be associated with identifiable syndromes. A recent survey from a major cleft palate center in New York showed that 30% of patients had recognizable conditions. Some of these included genetic syndromes and others like the charge association or those related to environmental agents were sporadic. Another 30% of cases had one or more associated anomalies, although a specific syndromic diagnosis or etiologic basis could not be identified. The remaining 40% had isolated clefts. A summary of syndromes with cleft lip and palate by etiology is given in Table 1. Approximately, half of the recognized syndromes are due to single-gene disorders with an equal distribution among autosomal dominant and autosomal recessive inheritance. Chromosomal abnormalities account for 18% of the clefting syndromes and would invariably be associated with other malformations, delayed development, and poor prognosis.

scholarly journals An interstitial deletion of chromosome 9 in a girl with multiple congenital anomalies.

1977 ◽  
Vol 14 (6) ◽  
pp. 455-459 ◽  
Author(s):  
L Wisniewski ◽  
G Purdy ◽  
T Hassold ◽  
C Wilson ◽  
K Bentley ◽  
...  
Keyword(s):  
Congenital Anomalies ◽  
Interstitial Deletion ◽  
Chromosome 9 ◽  
Multiple Congenital Anomalies

scholarly journals Women Are More Susceptible to Caries but Individuals Born with Clefts Are Not

2011 ◽  
Vol 2011 ◽  
pp. 1-6 ◽  
Author(s):  
Aditi Jindal ◽  
Michelle McMeans ◽  
Somnya Narayanan ◽  
Erin K. Rose ◽  
Shilpa Jain ◽  
...  
Keyword(s):  
Dental Care ◽  
Strong Evidence ◽  
Congenital Anomalies ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Geographic Area ◽  
Caries Experience ◽  
Access To Dental Care ◽  
Cultural Pressures ◽  
Great Burden

The identification of individuals at a higher risk of developing caries is of great interest. Isolated forms of cleft lip and palate are among the most common craniofacial congenital anomalies in humans. Historically, several reports suggest that individuals born with clefts have a higher risk for caries. Caries continues to be the most common infectious noncontagious disease worldwide and a great burden to any health system. The identification of individuals of higher susceptibility to caries is of great interest. In this paper, we assessed caries experience of 1,593 individuals from three distinct populations. The study included individuals born with clefts, their unaffected relatives, and unrelated unaffected controls that were recruited from areas with similar cultural pressures and limited access to dental care. DMFT/dmft scores were obtained, and caries experience rates were compared among the three groups in each geographic area. Individuals born with clefts did not present higher caries experience in comparison to their unaffected relatives or unrelated unaffected controls. Women tend to present higher caries rates in comparison to men. Our work provides strong evidence that individuals born with clefts are not at higher risk to caries; however, women tend to have more severe caries experience.

scholarly journals Incidence of Orofacial Clefts in Kumasi, Ghana

2013 ◽  
Vol 2013 ◽  
pp. 1-6 ◽  
Author(s):  
P. Agbenorku ◽  
M. Yore ◽  
K. A. Danso ◽  
C. Turpin
Keyword(s):  
Cleft Palate ◽  
Congenital Anomalies ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Orofacial Clefts ◽  
Female Ratio ◽  
Live Births ◽  
Male Female Ratio ◽  
Cleft Lip Palate ◽  
History Of

Background. Cleft lip and cleft palate are among the most common orofacial congenital anomalies. This study is to establish Orofacial Clefts Database for Kumasi, Ghana, with a view to extend it to other cities in future to obtain a national orofacial anomaly database. Methods. A descriptive prospective survey was carried out at eleven selected health facilities in Kumasi. Results. The total number of live births recorded was 27,449. Orofacial anomalies recorded were 36, giving an incidence of 1.31/1000 live births or 1 in 763 live births. The mean maternal age of cleft lip/palate babies was 29.85 years (range 18–40 years). The male : female ratio for the orofacial anomalies babies was 1.3 : 1; the male : female ratio was 0.5 : 1 in the cleft lip group, 1.3 : 1 in the cleft lip and palate group, and 4 : 1 in the cleft palate group. The majority of clefts were unilateral (69.4%, n=25), with females (n=14) outnumbering males (n=11). A family history of cleft was recorded with five babies (13.9%). Associated congenital anomalies were recorded in seven (19.4%) cleft lips and/or palates. Conclusion. The incidence of 1 in 763 live births found in this study indicates that cleft lip/palate is a common congenital anomaly in Kumasi.

scholarly journals Association of other congenital anomalies in children with cleft lip and palate: a prospective hospital based observational study

2019 ◽  
Vol 6 (3) ◽  
pp. 1059
Author(s):  
Padmasani Venkat Ramanan ◽  
Rajesh Balan ◽  
Jyotsna Murthy ◽  
Syed Altaf Hussain
Keyword(s):  
Congenital Anomaly ◽  
Congenital Anomalies ◽  
Congenital Malformations ◽  
Congenital Heart ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Associated Anomalies ◽  
Live Births ◽  
Associated Malformations ◽  
Syndrome Association

Background: Cleft lip and palate is a common congenital anomaly affecting approximately 1 in 700 live births in south Asia. It is often associated with syndromes and other malformations but the exact incidence of these in Asians is not known. The present study was carried out to determine the association of other congenital anomalies in children with cleft.Methods: The study was carried out in the patients attending the Cleft centre of our Hospital. They were examined for other major external congenital malformations and syndrome association.  Where ever relevant, appropriate investigations were done.Results: Of the total of 2367 children examined, 262 (11.06%) had congenital malformations.  Among the non-syndromic children, 9% had associated malformations.  The commonest was congenital heart disease (1.4%) following by genitourinary and skeletal anomalies.  The highest number of anomalies was seen in patients with cleft palate alone (24.89%). 1.4% patients had identifiable syndromes.Conclusions: The study emphasizes the need for a thorough examination of all children with cleft.  The overall lower incidence of syndromic clefts and associated anomalies in present study suggests that other etiological factors may be involved in our country.

Bilateral Asymmetry in Chinese Families with Cleft Lip with or without Cleft Palate

2005 ◽  
Vol 42 (2) ◽  
pp. 192-196 ◽  
Author(s):  
Katherine Neiswanger ◽  
Margaret E. Cooper ◽  
You-e Liu ◽  
Dan-ning Hu ◽  
Michael Melnick ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Repeated Measures ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Middle Finger ◽  
Case Control ◽  
Rank Test ◽  
Palpebral Fissure ◽  
Bilateral Asymmetry ◽  
Signed Rank Test

Objective To determine if Chinese individuals with nonsyndromic cleft lip with or without cleft palate (CL/P) display more bilateral asymmetry than do their unaffected relatives. Design/Subjects A case-control study of 313 individuals with CL/P from Shanghai, China, with 201 unaffected relatives as controls. Methods Size-adjusted asymmetry scores were defined by data on middle-finger length, palm length, palpebral fissure width, and ear length. Case-control comparisons used a multivariate repeated measures analysis of variance, paired t tests, and the Wilcoxon signed rank test. Results The ear-length measure showed a significant increase in fluctuating asymmetry (FA) in individuals with CL/P compared with their unaffected relatives, which was most pronounced in the female cleft lip and palate subgroup (p = .04). No other measures showed any increase in FA. Conclusion Evidence was found for increased FA, as measured by overall ear length, in Chinese individuals with nonsyndromic CL/P, compared with their unaffected family members. The use of bilateral measurements other than dermatoglyphics may prove to be a valuable means of assessing overall developmental stability in individuals with developmental malformations and in their families.

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