Aarskog syndrome in a brazilian boy born to consanguineous parents

Guion‐Almeida, Maria Leine; Richieri-Costa, Antônio

doi:10.1002/ajmg.1320430511

Cited by 5 publications

(1 citation statement)

References 12 publications

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“…The true value of the estimate is obviously an unknown quantity, but its upper and lower limits are given by estimates 1 and 2, respectively. A Smith-Lemli-Opitz syndrome: Brazilian study 431 Smith, Lemli and Opitz, 1964;Wallace et al, 1994;Comier-Daire et al, 1996;Guzzeta et al, 1996;Krajewska-Walasek et al, 1999 (Grier et al, 1983;Cappa et al, 1987;Fryns et al, 1992;Guion-De-Almeida and Richieri Costa, 1992;Mc Donald et al, 1993;Teebi et al, 1993;Fernandez et al, 1994;Gibbons et al, 1995;Reardon et al, 1995). The estimates thus obtained are shown in Table 2.…”

Section: -Dhc Analysismentioning

confidence: 95%

Smith-Lemli-Opitz syndrome: clinical and biochemical findings in Brazilian patients

et al. 2006

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Smith-Lemli-Opitz syndrome (SLOS) or RSH syndrome comprises multiple congenital anomalies and mental retardation. The underlying defect is a deficiency in the activity of D 7 -sterol reductase, which decreases cholesterol and increases 7-dehydrocholesterol (7-DHC) levels. Our aim was to identify and evaluate the frequency of SLOS manifestations in a group of Brazilian patients. Based on our own data and those reported previously, we present a simple method that allows the estimation of probabilities favoring the diagnosis of SLOS.

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Section: -Dhc Analysismentioning

confidence: 95%

Smith-Lemli-Opitz syndrome: clinical and biochemical findings in Brazilian patients

et al. 2006

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Brief clinical report sperm acrosome defects in a patient with Aarskog-Scott syndrome

et al. 1996

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Aarskog syndrome: Report of a family with review and discussion of nosology

1993

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Five individuals in one family, including dizygotic male twins, a half brother and their mother, had Aarskog syndrome (AS). Phenotypic variability is wide not only between mother and sons but also between sibs. Collectively, the affected relatives have the full spectrum of findings seen in AS. Based on analysis of this family and others from the literature, we derive primary and secondary diagnostic criteria for AS. Primary criteria include: short stature, hypertelorism, short nose with anteverted nares, maxillary hypoplasia, a crease below the lower lip, mild interdigital webbing with short and broad hands, short fifth finger with clinodactyly, and shawl scrotum. Secondary criteria include: abnormal auricles with fleshy lobules, posteriorly angulated ears, widow's peak, ptosis, downward slant of palpebral fissures, joint hyperextensibility, broad feet with bulbous toes, cryptorchidism, inguinal hernia, and prominent umbilicus. Literature pertaining to the clinical manifestations and genetics of AS is reviewed and nosology of similar syndromes is discussed.

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Aarskog syndrome in a brazilian boy born to consanguineous parents

Cited by 5 publications

References 12 publications

Smith-Lemli-Opitz syndrome: clinical and biochemical findings in Brazilian patients

Smith-Lemli-Opitz syndrome: clinical and biochemical findings in Brazilian patients

Brief clinical report sperm acrosome defects in a patient with Aarskog-Scott syndrome

Aarskog syndrome: Report of a family with review and discussion of nosology

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