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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Three females in a sibship of 10 have a syndrome of mental retardation, ectodermal dysplasia, and cleft lip and/or cleft palate. Inconstant features are congenital skin defects, areas of hyperpigmentation, congenital adhesions between the eyelids, cicatricial atrophy of the scalp, abnormal E.E.G., partial anodontia, genital hypoplasia, syndactyly, and delayed skeletal growth and maturation. The mode of inheritance could be either dominant with incomplete penetrance, or autosomal recessive. The disorder has overlapping features with several previously delineated syndromes but in view of certain novel features its relationship to these is uncertain.
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PMID:Ectodermal dysplasia, mental retardation, cleft lip/palate and other anomalies in three sibs. 17 48

A comprehensive profile of communicative disorders in patients with Moebius syndrome was attempted. Seven patients were evaluated by the authors and the findings were added to 15 contributed case-histories. Most patients demonstrated some degree of dysarthria due to congenital paralysis of the facial nerves. Other problems such as cleft palate, hearing loss, mental retardation and delayed development of language were found in a few of the patients. As most of the older children in the sample and in reports in the literature eventually developed intelligible speech, a program of oral language stimulation and compensatory articulatory adjustments would appear to be the procedure of choice.
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PMID:Speech, language and hearing in Moebius syndrome: a study of 22 patients. 20 1

Ten subjects were randomly selected from each of four pools of patients (male CPO, male CLP, female CPO and CLP) age six to 18 years regularly followed by a cleft palate clinic. Forty controls from a family practice clinic were matched for age, sex, and socio-economic status. Congenital second anomalies were present in 13 cleft children, five of whom were male CPO. Significant hearing loss was found in 11 cleft children and speech articulation problems in about 50 per cent of the sample. Both cleft and control groups were interviewed by a child psychiatrist, and mothers completed a behavior rating check list. There were no significant differences in the number of subjects from both groups having psychiatric diagnoses or conflicts. Mother's ratings indicated that cleft group had significantly more subjects with excessive dependency problems while control group had significantly more subjects having problems with resenting correction, talking negatively about self, and projecting blame to others. Significantly more male CPO and female CLP patients had psychiatric diagnoses, particularly mental retardation and developmental deviations, when compared to male CLP and female CPO groups. Cleft children with articulation problems were more likely to have psychiatric diagnoses and conflicts.
Cleft Palate J 1978 Jul
PMID:Psychiatric evaluation of youth with cleft lip-palate matched with a control group. 27 70

De Myer (1963) classified median-facial anomalies into two groups: 1. Median cleft lip with orbital hypotelorism 2. Median cleft lip with orbital hypertelorism. The first group is characterised by median-cleft lip, absence of premaxilla, nasal skeleton, and crista galli. In addition, there is a holoprosencephaly which may involve the whole forebrain or a smaller part of the brain. In this group, the children die within the first year or during childhood and always suffer from mental retardation. In this report, we present a 12-year-old child with an unusual form of median cleft lip with hypotelorism without brain deformity.
Cleft Palate J 1978 Oct
PMID:An unusual case of median cleft lip with orbital hypotelorism--a missing link in the classification. 28 Dec 80

This report describes an infant with fatal congenital heart disease, cleft palate, brain malformations, and trisomy 8p resultant from the paternal balanced reciprocal translocation, rcp(8;15) (p11;p11). Review of six previously reported trisomy 8p patients (resultant from parental balanced translocation in each instance) revealed severe mental retardation in five, short stature in all, and a variety of brain, skeletal, and cardiac defects. The features of the seven trisomy 8p patients reviewed here are not sufficiently similar to suggest a distinct dysmorphic syndrome. In addition the features differ from those in the trisomy 8 mosaicism syndrome, in which the mental retardation and malformations are generally less severe.
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PMID:Report of a trisomy 8p infant with carrier father. 31 58

We studied the abnormal ocular and systemic findings in one case of true triploidy and two cases of triploid mosaicism. A liveborn triploid child 69,XXY, had abnormalities including cebocephaly, a single midline nostril, incomplete cleft palate, transverse palmar creases, partial syndactyly, and ambiguous genitalia. Ocular abnormalities included hypotelorism, blepharophimosis, microcornia, iris coloboma, cataract, persistent hyaloid vasculature, retinal dysplasia, and optic atrophy. A 16-year-old girl with triploid mosaicism had congenital left facial and body hemiatrophy, both growth and mental retardation, left-sided grand mal seizures, incontinentia pigmenti of both legs, partial syndactyly, and generalized weakness. Results of her ocular examination were within normal limits. A 13-year-old boy with triploid mosaicism exhibited both growth and mental retardation, truncal obesity, and required a brace to support his back. Ocular findings included synophrys, bilateral blepharoptosis, and abnormal results of Schirmer tear test. Studies indicate a wide spectrum of ocular and systemic abnormalities occur that are presumably associated with the chromosome error.
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PMID:Ocular findings in triploidy. 41 37

To our knowledge, there have been three prior reports of patients found, with trypsin-Giemsa banding, to be monosomic for the terminal q segment of chromosome 4. Described herein is a fourth patient with this chromosome abnormality. Comparison of these four patients suggests a characteristic phenotype in the 4q- syndrome: cleft palate, satyr deformity of the pinnae, snub nose, retrognathia and micrognathia, hypertelorism, oropharyngeal hypothonia or upper airway obstruction, cardiac defect, clinodactyly of the fifth fingers with absence of a flexion crease, simian lines, displaced or clinodactylous toes, and mental retardation. In the three prior reports, the 4q- syndrome resulted from a de novo deletion. In the present case, the 4q monosomy was inherited from the father, who had a 4;20 translocation.
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PMID:4q- syndrome. 43 54

Complete or partial trisomy 14 is compatible with life. However, in the former case, mosaicism is probably always present. A case of trisomy 14 mosaicism is reported. Comparisons are made with other trisomy 14, trisomy 14 mosaicism, and duplication 14q cases previously reported. As a group, they share some clinical manifestations. The phenotype consists of multiple congenital anomalies, including microcephaly, broad nose, wide mouth, high or cleft palate, micrognathia, congenital heart disease, intrauterine growth retardation, and mental retardation. The present patient also has asthma, eczema, and developmental asymmetry.
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PMID:Trisomy 14 mosaicism: case report and review. 47 33

A newborn boy presented with an acrocephaly characterized by a coronal craniosynostoses, open sagittal sutures and abnormally high and straight forehead. He was the only child of young, unrelated, healthy parents; there was no familial history of dysmorphy. Facial asymmetry was important and associated with posterior cleft palate, syndactylia of the tips and polydactylia of feet, due to a splitting of the first metatarsus. The child also had a congenital heart disease, like in half of the 15 published cases. In older children, mental retardation is usually observed, often associated with obesity and hypogonadism. Polydactylia permitted to exclude Apert's acrocephalosyndactylia in which there is a normal number of finger arms and which seems to be a dominant mutation, while the transmission of Carpenter's syndrome appears autosomal recessive, thus requiring restrictive genetic counselling.
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PMID:[Carpenter's syndrome]. 60 89

A child with a cleft palate and mental retardation was found to have a malignant mucoepidermoid carcinoma of a minor salivary gland at the age of 18 months. The management of this case is presented.
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PMID:Carcinoma of a minor salivary gland in an 18-month-old child: case report. 71 32


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