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

In this report a description is given of the Aarskog syndrome in six males belonging to three different families. Partial expression of the syndrome was confirmed in two of the three examined obligate female heterozygotes, who had short stature, small hands and feet, short neck, and a round face with widow's peak and, in one of them, ptosis of the eyelids.
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PMID:The Aarskog syndrome. 66 98

Prominent physical features of the Aarskog syndrome are short stature, telecanthus, ptosis, short broad nose, long philtrum, thin upper vermilion border and pouty lower lip, low-set jug-handle ears, short broad hands with clawlike positioning of the fingers, broad feet with bulbous toes, ventral scrotal folds, cryptorchidism, and hernias. Four families with 20 affected males are reported. Pedigree analysis is compatible with X-linked recessive inheritance with occasional partial expression in heterozygote females. The fact that seven sons, all unaffected, have been born to affected males argues against the alternative hypothesis of autosomal sex-influenced inheritance.
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PMID:The inheritance of the Aarskog facial-digital-genital syndrome. 112 28

A 32 year old female patient, documented clinically and echocardiographically to have a competent prolapse of the mitral valve (MVP), developed a sudden ischemic cerebrovascular accident (CVA), suggestive of embolism. There were no predisposing factors to cerebrovascular disease, except for past use of contraceptive pills. Tomographic study disclosed an ischemic right-parietal "wedge-shaped" defect. The patients's recovery, with physiotherapy and AAS, was satisfactory. The authors discuss the association of MVP and CVA, considering physiopathogenic, prophylactic and therapeutic aspects, emphasizing the need to consider MVP as a cause of CVA in young adults.
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PMID:[Mitral valve prolapse as a probable cause of cerebral ischemia. A case report]. 281 40

A case of Aarskog syndrome in a 6-years old boy is reported. The patient showed clinical pictures typical of the syndrome: characteristic dysmorphic facies, palpebral ptosis, brachyfalangism, abnormality of the scrotum. Minimal stigmata and clinodactyly of 5th finger were present in a sister. Isolated bilateral clinodactyly was found in other 4 members of the family. The significance of this sign in the context of the syndrome has been discussed. Unusual dermatoglyphic patterns were present in the proband, mother and sister.
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PMID:[Aarskog's syndrome (facial-digital-genital syndrome). Study of a family (author's transl)]. 734 26

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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PMID:Aarskog syndrome: report of a family with review and discussion of nosology. 832 9

A syndrome encompassing postnatal onset of short stature, widow's peak, ptosis, posteriorly angulated ears, and limitation of forearm supination is reported in a boy and his mother. The boy has not yet experienced dislocation of patella or other joint anomaly except for limitation of supination of the forearms. On the other hand, the mother has a milder limitation of supination only on the left arm and is devoid of ptosis. Their condition is reminiscent of that described in the family reported by Kapur et al. [1989: Am. J. Med. Genet. 33: 357-363.], which showed an X-linked dominant mode of inheritance. DNA study on our family using an intragenic polymorphism of the Aarskog syndrome (FGD1) gene and four other adjacent markers convincingly excludes the possibility that their condition could be caused by a mutation of the FGD1 gene. Our family and the family reported by Kapur et al. may suggest segregation of a novel X-linked dominant condition.
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PMID:Syndrome of short stature, widow's peak, ptosis, posteriorly angulated ears, and joint problems: exclusion of the Aarskog (FGD1) gene as a candidate gene. 1124 98

We present two unrelated boys with craniosynostosis and similar facial features including hypertelorism, down-slanted palpebral fissures, ptosis, broad mouth with a thin upper lip, and preauricular pits. Both patients had short, broad first digits as well as short, broad hands. Both also had respiratory difficulties and umbilical abnormalities. Although, many of these features are seen in Aarskog-Scott and in Teebi hypertelorism syndromes, both children had craniosynostosis, which has not been previously reported in either syndrome. We propose that these children may have a previously unreported syndrome consistent with X-linked inheritance, although an autosomal dominant mode of transmission cannot be excluded.
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PMID:A newly recognized craniosynostosis syndrome with features of Aarskog-Scott and Teebi syndromes. 1750 99

Teebi hypertelorism syndrome is a rare autosomal dominant disorder that has eluded a molecular etiology since first described in 1987. Here we report on two unrelated families with a Teebi hypertelorism-like syndrome and Teebi hypertelorism phenotype who have missense mutations in Sperm Antigen With Calponin Homology And Coiled-Coil Domains (SPECC1L), previously associated with oblique facial clefting and Opitz G/BBB syndrome. The first patient and his affected mother were previously-reported by Hoffman et al. in this journal as a new syndrome resembling Teebi hypertelorism and Aarskog syndromes in 2007. This patient had hypertelorism, sagittal and coronal craniosynostosis, ptosis, natal teeth, unusual umbilicus, shawl scrotum, small hands, and feet, with grossly normal development. Our second patient had classic Teebi hypertelorism syndrome with hypertelorism and a giant umbilical hernia. Patient one and his affected mother had a c.1260G>C:p.E420D variant and patient two had a de novo c.1198_1203delATACAC:p.I400_H401del variant in SPECC1L. We review the phenotypic findings in the previously-published Teebi hypertelorism syndrome patients, and the Opitz G/BBB patients with SPECC1L mutations. In addition we emphasize the findings of aortic root dilation and craniosynostosis in these patients, which should be considered in their management.
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PMID:Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome. 2611 Oct 80