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Results for “MOUTH ABNORMALITIES”

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At least 397 records · Page 22Linked to original sources
PubMed1979

Pathophysiological effects of Möbius syndrome on speech and hearing.

The effects of Möbius syndrome (MoS) on the functioning of the peripheral speech and hearing mechanisms has not hithertofore been described, to my knowledge. Speech and hearing function of an 8-year-old MoS speaker was studied. Data were obtained from several sources. These included: electromyography of the facial muscles, physical examination of the peripheral speech mechanism, speech and language test batteries, audiological evaluation, and acoustic analyses of the speech signal. A pathologic condition was found to exist in a number of cranial nerves and in structures in the oral cavity. This resulted in consonant and vowel misarticulations, which notably affected speech intelligibility. Middle ear dysfunction was also present. Neurological mechanisms are discussed to account for these pathologies in human communication. Strategies for speech therapy and future research in MoS are presented.

Abducens Nerve↗
PubMed1998

Syndromic foramina parietalia permagna.

We report on a boy with unique somatic and skeletal manifestations. The syndrome consists of branchial and auricular fistulae, abnormal face, and skeletal abnormalities including foramina parietalia permagna.

Abnormalities, Multiple↗
PubMed1991

Astomia-agnathia-holoprosencephaly association. Prenatal diagnosis of a new case.

A case of agnathia-astomia-holoprosencephaly with prenatal ultrasound diagnosis at 23 weeks is reported and discussed. This lethal neurocristopathy, well known in mammalians, is rarely observed in humans. Prenatal diagnosis features are intrauterine growth retardation, mandibular absence or major hypoplasia, holoprosencephaly, cyclopia or hypotelorism, and in some instances frontal proboscis. This malformation is usually sporadic, but may be genetically determined as an autosomal recessive trait, since two cases in the same sibship have been reported.

Abnormalities, Multiple↗
PubMed1993

A severe case of Beare-Stevenson syndrome and associated congenital deformities.

A severe case of congenital anomalies is described, with several characteristics of Beare-Stevenson syndrome, such as cutis gyrata, acanthosis nigricans, craniofacial anomalies, ear defects, enlarged umbilical stump and anogenital anomalies. He does not have craniosynostosis or clover leaf skull, which has also been described in this syndrome. This patient also shows hands and feet anomalies, absence of skin adnexa in several locations and dental anomalies, which could suggest an associated ectodermal dysplasia.

Abnormalities, Multiple↗
PubMed1997

Retinal capillary hemangioma in Marshall-Stickler syndrome.

PURPOSE: Retinal capillary hemangioma, often associated with von Hippel-Lindau syndrome, is not characteristically seen in other conditions. We report a patient with Marshall-Stickler syndrome who had a retinal capillary hemangioma. METHOD: A 31-year-old man with Marshall-Stickler syndrome was evaluated for a retinal vascular tumor. RESULTS: Evaluation showed a retinal capillary hemangioma of the von Hippel type. Magnetic resonance imaging disclosed no tumors of brain, kidney, or other organs. The retinal tumor was treated with cryotherapy. CONCLUSION: Retinal capillary hemangioma is not pathognomonic of von Hippel-Lindau syndrome, and it may be associated with the Marshall-Stickler syndrome.

Adult↗
PubMed1979

Syndromology's message for craniofacial biology.

Syndromology is a misunderstood specialty that has much to contribute to the understanding of cranio-facial biology in general and the study of craniofacial anomalies in particular. An introduction to the practice of syndromology and the rudiments of syndrome delineation is presented. The aetiology and pathogenesis of selected craniofacial anomalies (Robin complex, hemifacial microsomia, and craniosynostosis) are considered from the perspective of syndromology.

Chromosomes↗
PubMed1984

Popliteal pterygium syndrome presenting with orofacial abnormalities. Report of a family.

A family with popliteal pterygium syndrome is reported: two children presented a mild form of the syndrome, while their mother exhibited full expression of the gene. Only 11 families with 29 affected members and 25 sporadic cases have been published. This malformation syndrome is inherited in an autosomal dominant pattern, but environmental factors or genetic heterogeneity cannot be excluded in sporadic occurrences. The variability of expression is discussed and a comparison with previously published familial cases is made: minor anomalies, if present in relatives of patients with full gene expressions, are as helpful in making the diagnosis as are major abnormalities. Careful evaluation of the proband's family is essential for diagnosis and subsequent genetic counselling.

Abnormalities, Multiple↗
PubMed2006

Prenatal multivitamin supplementation and rates of congenital anomalies: a meta-analysis.

BACKGROUND: The use of folic acid-fortified multivitamin supplements has long been associated with decreasing the risk of neural tube defects. Several studies have also proposed the effectiveness of these supplements in preventing other birth defects; however, such effects have never been systematically examined. OBJECTIVE: We conducted a systematic review and meta-analysis to evaluate the protective effect of folic acid-fortified multivitamin supplements on other congenital anomalies. METHODS: We searched Medline, PubMed, EMBASE, Toxline, Healthstar, and Cochrane databases for studies describing the outcome of pregnancies in women using multivitamin supplements that were published in all languages from January 1966 to July 2005. The references from all collected articles were reviewed for additional articles. Two independent reviewers who were blinded to the source and identity of the articles extracted data based on predetermined inclusion and exclusion criteria. Using a random effects model, rates of congenital anomalies in babies born to women who were taking multivitamin supplements were compared with rates in the offspring of controls who were not. RESULTS: From the initial search, 92 studies were identified; 41 of these met the inclusion criteria. Use of multivitamin supplements provided consistent protection against neural tube defects (random effects odds ratio[OR] 0.67, 95% confidence intervals [95% CI] 0.58-0.77 in case control studies; OR 0.52, 95% CI 0.39-0.69 in cohort and randomized controlled studies), cardiovascular defects (OR 0.78, 95% CI 0.67-0.92 in case control studies; OR 0.61, 95% CI 0.40-0.92 in cohort and randomized controlled studies), and limb defects (OR 0.48, 95% CI 0.30-0.76 in case control studies; OR 0.57, 95% CI 0.38-0.85 in cohort and randomized controlled studies). For cleft palate, case control studies showed OR 0.76 (95% CI 0.62-0.93), and cohort and randomized controlled studies showed OR 0.42 (95% CI 0.06-2.84); for oral cleft with or without cleft palate, case control studies showed OR 0.63 (95% CI 0.54-0.73), and cohort and randomized controlled studies showed OR 0.58 (95% CI 0.28-1.19); for urinary tract anomalies, case control studies showed OR 0.48 (95% CI 0.30-0.76), and cohort and randomized controlled studies showed OR 0.68 (95% CI 0.35-1.31); and for congenital hydrocephalus case control studies showed OR 0.37 (95% CI 0.24-0.56), and cohort and randomized controlled studies showed OR 1.54 (95% CI 0.53-4.50). No effects were shown in preventing Down syndrome, pyloric stenosis, undescended testis, or hypospadias. CONCLUSION: Maternal consumption of folic acid-containing prenatal multivitamins is associated with decreased risk for several congenital anomalies, not only neural tube defects. These data have major public health implications, because until now fortification of only folic acid has been encouraged. This approach should be reconsidered.

Adult↗
PubMed1998

A female patient with partial duplication 22 (q13-->qter).

We report on a 9-month-old female patient with pre- and postnatal growth retardation, hypertelorism, bilateral cleft lip and palate, and a peripheral pulmonary stenosis. High resolution banding and fluorescent in situ hybridization (FISH) revealed a de novo partial trisomy 22q13-qter. We compare the clinical findings to published patients with this rare chromosomal aberration and discuss the chromosomal differential diagnosis. Facial features at first sight suggestive of Wolf-Hirschhorn syndrome may be an additional, previously undescribed clinical sign in some patients with partial trisomy 22q.

Abnormalities, Multiple↗