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Clinical Genetics May 1994We report on five patients with Aarskog syndrome who show previously undescribed umbilical features. Two of the five patients had protruding umbilicus, while the other...
We report on five patients with Aarskog syndrome who show previously undescribed umbilical features. Two of the five patients had protruding umbilicus, while the other three had a characteristic umbilicus consisting of a smooth depression with radiating branches of the cicatrix, and a flat cushion. These umbilical configurations have not previously been described in association with Aarskog syndrome. The flat configuration of the umbilicus could be a characteristic umbilical finding associated with Aarskog syndrome as well as the protruding umbilicus.
Topics: Abnormalities, Multiple; Adolescent; Bone and Bones; Child; Child, Preschool; Facial Bones; Genitalia, Male; Humans; Infant; Intellectual Disability; Male; Umbilicus
PubMed: 8076412
DOI: 10.1111/j.1399-0004.1994.tb04152.x -
American Journal of Medical Genetics May 1983Individuals with the Aarskog syndrome have shortness of stature, round face, hypertelorism, short fingers and hands, and flat feet; males have a shawl scrotum. Pedigrees... (Review)
Review
Individuals with the Aarskog syndrome have shortness of stature, round face, hypertelorism, short fingers and hands, and flat feet; males have a shawl scrotum. Pedigrees have consistently suggested X-linked inheritance, although the possibility of autosomal dominant inheritance was not excluded. We present a father and two sons affected with the Aarskog syndrome. Thus, the Aarskog phenotype either is genetically heterogeneous or a sex-influenced autosomal dominant trait as shown by the deficiency of affected females. An ascertainment bias for males could be owing to the shawl scrotum. We have reviewed the literature and tabulated findings in 82 previously reported cases.
Topics: Abnormalities, Multiple; Adult; Body Height; Child, Preschool; Face; Genes, Dominant; Humans; Male; Pedigree; Scrotum; Syndrome
PubMed: 6344635
DOI: 10.1002/ajmg.1320150105 -
Clinical Genetics Oct 1979A kindred with the Aarskog Syndrome (facio-digito-genital syndrome) is presented. The favorable outcome of this syndrome in terms of final height, intelligence and life...
A kindred with the Aarskog Syndrome (facio-digito-genital syndrome) is presented. The favorable outcome of this syndrome in terms of final height, intelligence and life expectancy is emphasized. It is pointed out that cleft lip and cleft pastic dermatoglyphic pattern includes simian creases and distal axial tiriradii. The pedigree analysis from 14 known kindreds strongly suggests an X-linked recessive mode of inheritance. It is noteworthy that the female carriers frequently showed varying and milder expression of the syndrome, especially in their facies and hands.
Topics: Abnormalities, Multiple; Adolescent; Aged; Child; Cleft Lip; Cleft Palate; Dermatoglyphics; Face; Female; Fingers; Genetic Carrier Screening; Genitalia; Growth Disorders; Humans; Male; Pedigree; Syndrome; X Chromosome
PubMed: 519896
DOI: 10.1111/j.1399-0004.1979.tb00999.x -
Interactive Cardiovascular and Thoracic... Feb 2005Aarskog syndrome is a familial condition associated with craniofacial anomalies, genital malformations and short stature. Affected children have significantly higher...
Aarskog syndrome is a familial condition associated with craniofacial anomalies, genital malformations and short stature. Affected children have significantly higher chance of having congenital heart disease (CHD) than the general population. We report the case of a child afflicted with progressive aortic root dilatation and sub-valvular aortic stenosis, successfully managed with aortic root and valve replacement. Given the association between Aarskog syndrome and CHD, cardiac surveillance should be undertaken in all affected children.
PubMed: 17670353
DOI: 10.1510/icvts.2004.089672 -
BMJ Case Reports Jun 2020Aarskog-Scott syndrome (AAS), also known as facio-genital dysplasia or faciodigitogenital syndrome, is a rare genetic disorder clinically characterised by facial, limb...
Aarskog-Scott syndrome (AAS), also known as facio-genital dysplasia or faciodigitogenital syndrome, is a rare genetic disorder clinically characterised by facial, limb and genitalanomalies. Although also autosomal dominance and recessive patterns have been reported, up to now, only an X linked form associated to mutations of the gene has been recognised as causative for this syndrome.In this case report, we describe a large Italian family in which three members across three generations show classical features of the syndrome. The youngest patient, the proband, and his mother were both molecularly studied and characterised for the not previously reported variant c.1828C>T (p. Arg610*) in the gene but with the classic phenotype of AAS. Additionally, both the proband and his mother present a 2.5 Mb 16p13.11-p12.3 microduplication, a genetic variant still unclear for the phenotypic consequences: the co-occurrence of the two rare conditions is discussed for the possible clinical significance.
Topics: Abnormalities, Multiple; Adult; Biological Variation, Population; Child Development; Diagnosis, Differential; Dwarfism; Face; Female; Genes, Duplicate; Genetic Diseases, X-Linked; Genitalia, Male; Guanine Nucleotide Exchange Factors; Hand Deformities, Congenital; Heart Defects, Congenital; Humans; Infant; Male; Mutation; Patient Care Management; Pedigree; Psychosocial Support Systems
PubMed: 32606125
DOI: 10.1136/bcr-2020-235183 -
American Journal of Medical Genetics.... Aug 2010Aarskog(-Scott) syndrome (AAS) is characterized by short stature, and facial, limb, and genital anomalies. AAS can be an X-linked condition caused by mutations in the...
Aarskog(-Scott) syndrome (AAS) is characterized by short stature, and facial, limb, and genital anomalies. AAS can be an X-linked condition caused by mutations in the FGD1 gene, but there is evidence that an autosomal dominant or recessive form also exists. We report on a Chinese family in whom several members have manifestations of AAS, but differ in limb anomalies and show additional characteristics. FGD1 sequencing and linkage analysis excluded FGD1 as the cause in this family. A common known submicroscopic chromosome imbalance is less likely. Both autosomal dominant and recessive patterns of inheritance remain possible.
Topics: Abnormalities, Multiple; Female; Genetic Diseases, X-Linked; Guanine Nucleotide Exchange Factors; Humans; Infant, Newborn; Intellectual Disability; Male; Mutation; Pedigree; Syndrome
PubMed: 20607856
DOI: 10.1002/ajmg.a.33487 -
American Journal of Medical Genetics Jan 1993
Topics: Colon, Sigmoid; Face; Genitalia, Male; Humans; Male; Syndrome
PubMed: 8418649
DOI: 10.1002/ajmg.1320450135 -
American Journal of Medical Genetics May 1994We report on 10 Japanese individuals from 3 families affected with Aarskog syndrome. Pulmonary stenosis and ventricular septal defect with spontaneous closure were... (Review)
Review
We report on 10 Japanese individuals from 3 families affected with Aarskog syndrome. Pulmonary stenosis and ventricular septal defect with spontaneous closure were detected respectively, in 2 of them as an uncommon finding. A review documented 169 non-Japanese cases (2 with congenital heart defects), while of 30 Japanese individuals reported till now, 4 (including ours) had cardiac anomalies. We propose that this combination is not coincidental and that in all cases of Aarskog syndrome a cardiac evaluation is indicated.
Topics: Abnormalities, Multiple; Child; Child, Preschool; Dwarfism; Face; Genitalia, Male; Hand Deformities, Congenital; Heart Defects, Congenital; Humans; Male; Syndrome; X Chromosome
PubMed: 8209909
DOI: 10.1002/ajmg.1320500404 -
Optometry (St. Louis, Mo.) Jul 2008Aarskog syndrome (facial-digital-genital syndrome) is an X-linked inherited disorder that causes multiple limb and genital abnormalities. Although ophthalmic...
BACKGROUND
Aarskog syndrome (facial-digital-genital syndrome) is an X-linked inherited disorder that causes multiple limb and genital abnormalities. Although ophthalmic manifestations are noted rarely, findings may include optic nerve hypoplasia, retinal vessel tortuosity, deficient ocular elevation, hyperopia, and anisometropia.
CASE REPORT
An 8-year-old boy with Aarskog syndrome presented with complaints of letter reversals, letter additions, and an occasional "crooked" eye when he became frustrated or tired. He was currently enrolled in a special education program because of poor academics. The examination found anisometropic amblyopia, superior ophthalmoplegia, and high hyperopic astigmatism. Glasses were prescribed, and further binocular, accommodative and perceptual testing will be performed once adaptation has occurred.
CONCLUSION
Knowledge of this rare condition can benefit the practitioner as well as the patient. An understanding of the associated conditions will aid and simplify the examination process. A search of the English-language literature is reported.
Topics: Abnormalities, Multiple; Amblyopia; Astigmatism; Child; Diagnosis, Differential; Facial Bones; Genitalia, Male; Hand Deformities, Congenital; Humans; Male; Ophthalmoplegia; Pedigree; Syndrome
PubMed: 18577494
DOI: 10.1016/j.optm.2007.10.010 -
American Journal of Diseases of... Aug 1973
Topics: Abnormalities, Multiple; Adolescent; Adult; Child; Chromosome Aberrations; Chromosome Disorders; Craniofacial Dysostosis; Cryptorchidism; Ear Deformities, Acquired; Ethnicity; Facial Expression; Female; Foot Deformities, Congenital; Growth Disorders; Hand Deformities, Acquired; Hand Deformities, Congenital; Heterozygote; Humans; Intellectual Disability; Male; Mexico; Pedigree; Psychomotor Disorders; Scrotum; Syndrome; United States
PubMed: 4146757
DOI: 10.1001/archpedi.1973.02110190218022