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At least 1,387 records · Page 77Linked to original sources
PubMed1997

Clinical variability of tetrasomy 12p.

We describe five patients with tetrasomy 12p (one previously reported). These patients exhibit a very wide range of phenotypic features from that of classic Pallister-Killian syndrome to only mild learning disabilities with pigmentary skin changes. As such, these cases highlight the fact that tetrasomy 12p [i(12p)] and Pallister-Killian syndrome are not synonymous, although this combination of genotype and phenotype is often seen. This information is especially important in prenatally ascertained i(12p). The full spectrum of phenotypic possibilities associated with this chromosome aneuploidy should be discussed in prenatal counseling.

Abnormalities, Multiple↗
PubMed1988

Congenital poisoning by polychlorinated biphenyls and their contaminants in Taiwan.

In 1979, a mass poisoning occurred in Taiwan from cooking oil contaminated by thermally degraded polychlorinated biphenyls. Because these chemicals persist in human tissue, children born to female patients after the outbreak were exposed in utero. In 1985, 117 children born to affected women and 108 unexposed controls were examined and evaluated. The exposed children were shorter and lighter than controls; they had abnormalities of gingiva, skin, nails, teeth, and lungs more frequently than did controls. The exposed children showed delay of developmental milestones, deficits on formal developmental testing, and abnormalities on behavioral assessment. These findings are most consistent with a generalized disorder of ectodermal tissue. This syndrome is one of very few documented to result from transplacental exposure to pollutant chemicals.

Conjunctivitis↗
PubMed2005

Beckwith-Wiedemann syndrome in a child with Chiari I malformation. Case report.

The authors present the case of a child diagnosed as having Beckwith-Wiedemann syndrome and Chiari I malformation. Hemihypertrophy is associated with Beckwith-Wiedemann syndrome and has been described in conjunction with Chiari I malformation. The authors hypothesize that the hemihypertrophy that may involve the skull base and Chiari I malformation found in their patient are not spurious findings but are pathologically related, perhaps by slight dysmorphologies of the posterior cranial fossa.

Arnold-Chiari Malformation↗
PubMedDate not supplied

Oral health and treatment needs in institutionalized psychiatric patients in India.

The caries prevalence, oral hygiene status, periodontal health and treatment needs were evaluated in a group of institutionalized psychiatric patients in Goa, India. Of the total 153 inmates, males constituted 59 percent, the mean age was 25 years, 96 percent were self sufficient and the response rate was 84 percent. 63 percent were diagnosed with schizophrenia. They did not receive any assistance in daily self-care activities including oral hygiene maintenance. None of the 5 edentulous patients had dentures, 5% had been referred for emergency dental care during the period of institutionalization. 15 subjects (12%) were caries-free, the stepwise linear regression analysis showed that the mean DMFT index significantly increased with age (t = 2-819, PL 0.05). Two third of the study population (88%) were in need of conservative dental treatment. The stepwise linear regression analysis showed that the mean OHI-S index significantly increased with age (t = 2.412, P < 0.01). Only 5.4% reported a healthy periodontium whereas 16.27% required complex periodontal therapy. Soft tissue lesions included dorsal lingual depapillation/heavily coated areas and angular cheilitis in addition to incidental observations such as mucosal hyperpigmentation, gingival hyperplasia, and leucoedema. Bruxism and factitious injuries were also noted. The onus of meeting the oral health needs of this marginalized patient population therefore depends on the effectiveness of community dentistry programs vis a vis the efforts of the staff of the institution to provide such services on a regular basis.

Adult↗
PubMed1977

[Atypical pulmonary stenosis in certain polymalformative syndromes. Prevalence of associated hypertrophique myocardiopathy].

Certain pulmonary stenoses differ markedly from the usual types of isolated valvular stenosis in their clinical features (maximal murmur situated lower down), their radiological signs (absence of a prominent median arc), the electrocardiograph (atypical electrical axis), the haemodynamic findings (usually a poor gradient), and especially the angiocardiography (valvular dysplasia, lack of a post-stenotic dilatation). They are encountered especially in the multiple malformations, as shown by this series of 23 cases comprising the syndrome of Noonan (9), of Gorlin or 'leopard' (7), of Watson or 'café-au-lait spots' (3), or those defying classification, but always having a disorder of facial structure and mental deficiency, sometimes with deafness (4). The frequent finding of a gradually progressive hypertrophic cardiomyopathy is a feature of these syndromes, and usually accounts for the abnormal ECG findings. It leads to a discussion of the pathogenesis, and of the place of these syndromes in a wider context, alongside the phacomatoses and the hereditary forms of neuromuscular degeneration.

Abnormalities, Multiple↗
PubMed1988

Piebaldism, Waardenburg's syndrome, and related disorders. "Neural crest depigmentation syndromes"?

The striking parallel between the melanin pigmentary abnormalities of the hair and skin in piebaldism, Waardenburg's syndrome, piebaldism with deafness, and piebaldism or Waardenburg's syndrome with aganglionosis of the gut suggests that all these disorders belong to the same category. At present, the most logical way to link these syndromes is to consider them the results of defective development of the neural crest. The reason that in certain circumstances only melanoblasts are affected whereas in other situations other neural crest derivatives also are involved is not yet clear. In addition, some features, such as the upper limb abnormalities observed in Klein's syndrome, are not explained by a neural crest defect. Our knowledge of the interaction between the neural crest and neighboring structures closely related to it during embryonic life is limited. Some clues allowing us to better understand these complex syndromes combining depigmentation of hair and skin will come from future research in this field.

Animals↗