Oral-Facial-Digital Syndrome in a Negro Female

Pruzansky, Samuel; Ruess, Aubrey L.; Buzdygan, Danuta

doi:10.1097/00006534-196603000-00007

Cited by 6 publications

(3 citation statements)

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“…The term 'median cleft lip' is used when the mucosal cleft extends to the skin of upper lip. Finally, the frequency of clefts in the present series was compared with the frequency of clefts in blacks (13)(14)(15) and Caucasians (7). Fisher's exact test was used to investigate differences among the groups; P<0.05 was considered to be statistically significant.…”

Section: Methodsmentioning

confidence: 99%

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Variability of expression of oral-facial-digital syndrome type I in 15 Saudi girls: Why is there a high rate of median cleft lip in the phenotype?

Al‐Qattan

Javed

2014

Plast Surg (Oakv)

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Background It is well known that the incidence of nonsyndromal cleft lip and palate varies greatly according to ancestry: 0.3 to 0.4 per 1000 live births in blacks, one in 1000 in Caucasians, and two in 1000 in Asians and individuals from the central province of Saudi Arabia. Median cleft lip is a variable feature in oral-facial-digital syndrome type I (OFD-I). Objective To test the hypothesis that genetic factors may determine the lip phenotype in OFD-I patients. Methods A study involving 15 Saudi girls (from the central province of Saudi Arabia) with OFD-I showed a high rate (93.3%) of median cleft lip and palate. This rate in OFD-I patients is known to range from 33% to 56% in Caucasians and also known to be very low in blacks. The authors compared the rate of median cleft lip with or without cleft palate in the Arabian series (93.3%) with the rate in Caucasians and blacks. Results The difference in median cleft lip with or without cleft palate among the three groups was significant. Conclusion This supports the hypothesis that ancestral genetic factors may determine the lip phenotype in OFD-I patients.

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Section: Methodsmentioning

confidence: 99%

“…There were a total of eight cases: six were reported by Salinas et al (13) and another two cases were previously reported by Harrod et al (14) and Pruzansky et al (15). In these eight black females with OFD-I, 25% had isolated cleft palate and none had median cleft or pseudocleft of the upper lip.…”

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confidence: 86%

Variability of expression of oral-facial-digital syndrome type I in 15 Saudi girls: Why is there a high rate of median cleft lip in the phenotype?

Al‐Qattan

Javed

2014

Plast Surg (Oakv)

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“…In 1991, Salinas et al (13) reviewed the literature on the clinical features of OFD-I in blacks. There were a total of eight cases: six were reported by Salinas et al (13) and another two cases were previously reported by Harrod et al (14) and Pruzansky et al (15). In these eight black females with OFD-I, 25% had isolated cleft palate and none had median cleft or pseudocleft of the upper lip.…”

mentioning

confidence: 86%

Variability of expression of oral-facial-digital syndrome type i in 15 Saudi girls: Why is there a high rate of median cleft lip in the phenotype?

Al‐Qattan¹,

Javed²

2014

CAN J PLAST SURG

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The authors have been practicing in the central province of Saudi Arabia since 1994. All native Saudi patients from the central province who were seen at three large government hospitals over the past 18 years (1994 to 2011) with the diagnosis of OFD-I were retrospectively reviewed. Sex, family history, clinical features and radiological investigations were reviewed. Particular attention was devoted to the presence of clefting, which was divided into two main groups: cleft lip and palate; and isolated cleft palate. Cleft lip included both median original artiCle ©2014 Canadian Society of Plastic Surgeons. All rights reserved MM Al-Qattan, K Javed. Variability of expression of oral-facial-digital syndrome type I in 15 Saudi girls: Why is there a high rate of median cleft lip in the phenotype?

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Variability of expression of the orofaciodigital syndrome type I in black females: Six cases

et al. 1991

Am. J. Med. Genet.

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Orofaciodigital syndrome type I (OFD I) includes striking orodental, facial, digital, renal, and central nervous system (CNS) abnormalities. Frequently associated with mental retardation, OFD I is inherited as an X-linked dominant trait, lethal in males. Here, we report the variable expressivity of OFD I in 6 black U.S. females and review findings in 2 previously reported black patients. Only these 8 of over 160 reported cases involve blacks. Abnormalities observed in black patients are similar to those observed in whites, but with specific differences. Only 25% of the blacks had cleft palate and none was observed with midline cleft of the upper lip. Among whites, 80% have cleft palate and 45% midline cleft of the upper lip. These findings suggest that racial genetic factors may protect lip and palate development in blacks, even in the presence of the OFD I gene. CNS abnormalities, including agenesis of the corpus callosum, hydrocephaly, cystic brain lesions, seizures, and mental retardation, were present in 50% of our the cases. This figure is greater than previously reported. Polycystic kidneys were present in 3 of our patients. Including a previously reported patient, 50% of the black OFD I patients show polycystic kidneys. Hyperplastic and supernumerary frenula, with or without brachydactyly, have been shown to be strong diagnostic criteria in our patients. New findings reported here include intracranial berry aneurysm, periodontal disease, and lip pits. Clinicians treating these patients should be aware of the pleiotropic manifestations of the syndrome, which may include renal and CNS anomalies. Ultrasonic and computed tomography scan studies are indicated in patients diagnosed with OFD I.

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Oral-Facial-Digital Syndrome in a Negro Female

Cited by 6 publications

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Variability of expression of oral-facial-digital syndrome type I in 15 Saudi girls: Why is there a high rate of median cleft lip in the phenotype?

Variability of expression of oral-facial-digital syndrome type I in 15 Saudi girls: Why is there a high rate of median cleft lip in the phenotype?

Variability of expression of oral-facial-digital syndrome type i in 15 Saudi girls: Why is there a high rate of median cleft lip in the phenotype?

Variability of expression of the orofaciodigital syndrome type I in black females: Six cases

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