A syndrom characterized by congenital ichthyosis with atrophy, mental retardation, dwarfism, and generalized aminoaciduria

Passwell, J H; Zipperkowski, Leo; Katznelson, D; Szeinberg, A.; Crispin, Moshe; Pollak, Shlomo; Goodman, Richard M.; Bat-Miriam, Marriassa; Cohen, B. E.

doi:10.1016/s0022-3476(73)80122-2

Cited by 34 publications

(13 citation statements)

References 12 publications

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“…Patients with enzymatic defects and premature infants (3), and patients with renal failure or with other diseases for which variations of aminoaciduria have been described: muscular (4), bone (5), skin (6,7) and eye (8) diseases, were all excluded from the study. We also omitted patients whose therapy is known to induce either methodological interferences in amino acid chromatpfraphy (9) or aminoaciduria variations (10)(11)(12)(13)(14)(15).…”

Section: Methodsmentioning

confidence: 99%

Age Related Reference Values for Urinary Free Amino Acids: A Simple Method of Evaluation

Parvy¹,

Huang²,

Kamoun³

1979

Clinical Chemistry and Laboratory Medicine

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Section: Methodsmentioning

confidence: 99%

Age Related Reference Values for Urinary Free Amino Acids: A Simple Method of Evaluation

Parvy¹,

Huang²,

Kamoun³

1979

Clinical Chemistry and Laboratory Medicine

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“…They suggested an autosomal recessive mode of inheritance for Kindler syndrome. In discussing another disorder, loosely termed congenital Ichthyosis, Passwell et al18 reasoned it was autosomal recessive based on the following observations: 1) it did not show a wide variability in expressivity;2) parental consanguinity with neither parent expressing the disorder; and 3) all affected members are in one sibship. The latter 2 points appear to fit well for cases described asKindler syndrome and for our case in particular.…”

mentioning

confidence: 99%

Early‐Onset Periodontitis Associated With Weary‐Kindler Syndrome: A Case Report

Wiebe

Silver²,

Larjava³

1996

Journal of Periodontology

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Weary-Kindler syndrome is a rare and poorly understood genetic disorder that has manifestations of both epidermolysis bullosa and poikiloderma congenitale. There are approximately 70 cases documented in the past 40 years but no cases appear in the dental literature, although dental findings have been discussed superficially in dermatological and pediatric publications. This case reports on the periodontal findings and treatment for a 16-year-old female diagnosed with the syndrome. Early exfoliation of deciduous teeth, severe periodontal bone loss around many permanent teeth, and fragile bleeding gingiva were key features. Microbiological testing revealed an absence of Actinobacillus actinomycetemcomitans and low levels of other commonly accepted periodontal pathogens. Tests for inflammation, including AST and elastase, were positive prior to therapy and greatly decreased after mechanical root instrumentation. A beneficial effect of non-surgical periodontal therapy was observed in the short-term follow-up.

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“…Ichthyosis, a skin disorder characterized by cutaneous scaling is a prominent feature of several genetic syndromes (Esterly 1968, Goodman 1970, Hurwitz 1981, Passwell et al 1973, Rayner et al 1978, Schnyder 1970.…”

Section: Discussionmentioning

confidence: 99%