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 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report on a mother and son with a 3p25-pter deletion. Both have postnatal growth retardation, mental retardation, apparently low-set or malformed ears, and telecanthus. The mother also has ptosis and multiple joint pains, while the son has a long philtrum and anteverted nares. These phenotypes are compared to those of other 3p- patients. Both patients have many manifestations previously described. The son appears to be more severely affected than the mother.
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PMID:Mother and son with deletion of 3p25-pter. 206 13

Cardiovascular anomalies have been studied in 13 subjects (8 males and 5 females, average age 15 +/- 7 years) affected from fragile X syndrome. This group has been examined by standard-ECG, Holter-ECG, echocardiography (M-mode, B-mode, Doppler and color-Doppler). The results have been compared with a control group of 39 subjects (20 males and 19 females, average age 15 +/- 5 years), with non genetic mental retardation. Clinical examination, ECG and Holter did not show any significant pathological alteration compared with the results of the control group. In the study group echocardiography showed the following results: 10 subjects (77%) had mitral valve prolapse of the anterior leaflet (arching); 4 of which (31%) with associated posterior leaflet prolapse; 2 subjects (15%) with posterior aortic leaflet prolapse; 2 subjects (15%) with tricuspid septal leaflet prolapse; 3 subjects (23%) had mild pulmonary artery dilatation; 1 subject (8%) had a mild aortic regurgitation; in 9 subjects (69%), 3 of whom with pulmonary artery dilatation, has been found pulmonary valve regurgitation; 10 subjects (77%) had tricuspid valve regurgitation. In all subjects cardiac dimensions were within the normal range. The most important result, in accordance with literature, is the high prevalence of mitral valve prolapse. The prolapse is asymptomatic and silent. We have never found aortic root dilatation that was described by other Authors. The described anomalies could be ascribed at the dysfunction of the connective tissue. This theory has been confirmed by necropsy studies. Therefore, we suppose that these alterations, particularly the anterior mitral leaflet prolapse, are non casually associated with the fragile X syndrome.
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PMID:[Cardiovascular aspects of Martin-Bell syndrome]. 209 33

Cornelia de Lange Syndrome (CDLS) is characterized by mental retardation, growth retardation, skeletal anomalies, and a characteristic facies. We examined 22 children with CDLS to ascertain the relative frequencies of oculofacial and ophthalmologic abnormalities. We confirm prior reports of the frequent findings of brow hypertrichosis, synophrys, and long arcuate eyelashes. In addition we documented the association with ptosis, nystagmus, and high myopia. Contrary to previous reports, we did not find blue sclera or corneal, pupillary, or retinal disorders to be part of this syndrome. Hypertelorism and telecanthus were found, but they were dependent on the method of calculation. Two children had optic nerve pallor. We also report the new findings of poor macular reflex, chin lifts induced by ptosis, hypertropia, and nasolacrimal duct fistula.
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PMID:Ophthalmologic findings in the Cornelia de Lange syndrome. 234 18

A woman and her two children had apparent dominantly inherited ocular abnormalities including aniridia, ptosis, nystagmus, corneal pannus, persistent pupillary membrane, lenticular opacities, and foveal hypoplasia. A broad spectrum of iris abnormalities was observed: the daughter had aniridia with persistent pupillary membrane strands traversing the anterior lens capsule; the iris of the mother and son had a velvety surface with no detailed crypts, but did have some persistent pupillary membrane tags extending from the collarette. All three family members had moderately severe bilateral ptosis, pendular nystagmus, corneal pannus, and visual acuity of 20/200. Several systemic abnormalities also were noted, including obesity and mental retardation in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. Family history indicated that the children's maternal grandmother also had similar ocular findings. We believe that this constellation of findings represents a rare, apparently dominant, variant of aniridia.
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PMID:Unusual variant of familial aniridia. 309 5

To sibs and an unrelated single patient have a combination of iris coloboma, ptosis, hypertelorism, broad nasal bridge, short stature, and mental retardation. The London Dysmorphology Database was used to determine whether this is a new syndrome.
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PMID:Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome. 335 90

Inheritance of ring chromosomes is reported infrequently. We report on a mother and her son both with a ring 18 chromosome, and describe the associated manifestations. The son had microcephaly, ptosis, short stature, and mental retardation; the mother was mentally retarded and had a similar facial appearance.
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PMID:Ring chromosome 18 in a mother and son. 370 4

Leber's congenital amaurosis is a hereditary clinical disorder that may be associated with several different diseases. This study consists of a retrospective review of 43 cases. Twenty of our patients had fundus appearances that resembled retinitis pigmentosa. Five had normal-appearing fundi. The remainder had other, previously reported fundus abnormalities, with the exception of two patients who demonstrated a new fundus finding, a nummular pigmentary pattern. Other associated eye anomalies included cataracts, keratoconus, ptosis, and strabismus. The most frequent systemic associations were mental retardation, cystic renal disease, skeletal disorders, and hydrocephalus.
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PMID:Leber's congenital amaurosis. Retrospective review of 43 cases and a new fundus finding in two cases. 382 12

A new case of 9 p trisomy is reported in a 7-month-girl having typical morphological abnormalities and a mental retardation. During the examination, unusual ocular abnormalities were observed: pigmented linear dots of the mid peripheral retinal. Strabismus and hypertelorism were present. However, the other ocular features, blepharophimosis, correctopia, ptosis, microphthalmia, iris coloboma, unusual position of the eyelashes were not observed.
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PMID:[Unusual ocular anomaly in 9 p trisomy: retinal depigmentation]. 403 67

One hundred and six children undergoing antireflux surgery were studied; 41 were severely mentally retarded and 29 had reflux strictures. Although the eventual rate of success was 92%, 20 patients developed complications that required a second operation. Prolapse of the fundoplication into the mediastinum was the commonest complication (in seven patients), followed by intestinal obstruction (in five), and intractable fibrous oesophageal strictures (in five). The incidence of postoperative complications was highest in patients with mental retardation or oesophageal strictures. Referral of these patients for operation was invariably delayed, and earlier referral may have avoided many of the complications.
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PMID:Results and complications of surgery for gastro-oesophageal reflux. 403 58

Human chromosome disease arises from a change in the number or structure of one or more chromosomes. The multiple genes represented in the duplicated or deleted chromosomes are not usually defective and any systemic abnormalities can be attributed to a change in gene dosage. Banding techniques are now commonly used to identify each chromosome and the specific chromosome duplication and deletion and structural rearrangements can now be identified unambiguously. Most ocular abnormalities have occurred in patients with chromosomal defects. Major ocular abnormalities, such as anophthalmia, cyclopia, retinoblastoma, microphthalmia, corneal opacities, coloboma, cataracts, intraocular cartilage, retinal dysplasia and absent optic nerves; and, minor abnormalities, such as ptosis, abnormal eyelid fissures, and Brushfield spots are present in individuals with abnormal chromosomes. The chromosome errors are usually present in all somatic tissues. consequently, multiple tissue abnormalities would be expected in most patients with chromosome abnormalities. Mental retardation is very common in those patients with abnormalities of autosomes. Therefore, it is unlikely that an isolated single clinical or histopathological ocular abnormality will be the result of a chromosome error. However, if the individual has multiple systemic abnormalities, then a chromosome error can be considered reasonably. Any chromosome disorder can be identified correctly by an appropriate banding chromosome determination on the affected individuals. With the possible exception of the association of 13q 14- and retinoblastoma, there does not appear to be any pathognomonic ocular abnormalities that occur in individuals with chromosome errors.
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PMID:Classification of chromosomal eye syndromes. 645 12


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