The Facial-Digital-Genital (Aarskog) Syndrome

Sugarman, Gerald I.; Rimoin, David L.; Lachman, Ralph S.

doi:10.1001/archpedi.1973.02110190218022

Cited by 23 publications

(25 citation statements)

References 5 publications

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“…Since then several cases have been reported widening the phenotypic spectrum of patients with this condition [Furukawa et al, 1972;Sugarman et al, 1973;Berman et al, 1975;Escobar and Weaver, 1978;F'ryns et al, 1978;Berry et al, 1980;Oberiter et al, 1980;Nielsen, 19881. Recently, Teebi et al [19881 reported on an inbreed Kuwaiti family with a condition closely resembling the Aarskog syndrome (Table I), and suggested autosomal recessive inheritance.…”

Section: Discussionmentioning

confidence: 99%

“…Based on the pattern ofoccurrence in various families, the inheritance of Aarskog syndrome has been interpreted as fitting an X-linked (recessiveisemi-dominant), autosomal dominant (sex-influenced), or autosomal recessive model [Aarskog, 1970[Aarskog, , F'urukawa et al, 1972Sugarman et al, 1973;Oberiter et al, 1980;Grier et al, 1981;Teebi et al, 19881. The main clinical manifestations of patients in these families are similar.…”

Section: Introductionmentioning

confidence: 99%

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Aarskog syndrome in a brazilian boy born to consanguineous parents

Guion‐Almeida

Richieri-Costa

1992

Am. J. Med. Genet.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Aarskog syndrome in a brazilian boy born to consanguineous parents

Guion‐Almeida

Richieri-Costa

1992

Am. J. Med. Genet.

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“…Macrocephaly may be also encountered [Kunze and Spranger, 1973; for recent reviews see Aarskog, 1990;Gorlin et al, 1990;Porteous and Goudie, 19911. Ophthalmoplegia, strabismus, and large corneae can be additional ophthalmological findings [Sugarman et al, 1973;Funderburnk and Crandall, 1974;Kirkham et al, 1975;Melnick and Shields, 1976;Brodsky et al, 19901. …”

Section: Clinical Reportsmentioning

confidence: 99%

“…Occasional oral manifestations include dental enamel hypoplasia [Melnick and Shields, 19761, "COY deformity of anterior mandible [Melnick and Shields, 19761, delayed eruption of teeth [Halse et al, 19791, hypoplastic jaws and overcrowded teeth [Dayal et al, 19901, irregularly implanted and hypoplastic teeth [Pedersen et al, 19801, congenitally missing teeth and short roots [Aarskog, 19701, cleft lip and/or cleft palate [Sugarman et al, 1973;Marcel et al, 1977, Hoo, 1979de Saxe et al, 19841, and large and broad central upper incisors, particularly in adults [F'ryns, 19923. Most patients are of normal or low normal intelligence; however, mild and moderate mental retardation has been also reported [Sugarman, 1973;Melnick and Shields, 1976;F'ryns et al, 1978,19891. In a recent study involving 52 males with AS from one center, F'ryns [1992] found that at least 30% of affected males were mentally retarded, two-thirds of them at the level of mild mental handicap.…”

Section: Nrmentioning

confidence: 99%

“…Scott [19711 published the resultsof a study of a family in which nine males, including a set of MZ twins, had similar manifestations. Subsequent reports of Aarskog syndrome (AS) have generally described a narrow intrafamilial variability [Furukawa et al, 1972;Sugarman et al, 1973;Funderburk and Crandall, 1974;Welch, 1974;Bennan et al, 1975;Duncan et al, 1977;Hoo, 1979;Berry et al, 1980;Grier et al, 1983;Hurst, 1983;Porteous and Goudie, 19911. However, in one extended pedigree, there was a marked intrafamilial variability [Van de Vooren, 19831.…”

Section: Introductionmentioning

confidence: 99%

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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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The Robinow Syndrome

et al. 1975

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A 13-year-old boy with the Robinow syndrome exhibited previously unreported anomalies of the digits, oral cavity, and middle ear. There was a marked phenotypic overlap between the Robinow syndrome and the Aarskog-Scott syndrome.In 1969, Robinow et al1 described a mother and her three children with a syndrome characterized by mesomelic dwarfism, genital hypopla¬ sia, and distinctive facies. Additional cases recently reported by Wadlington et al,2 Vera-Roman,1 Robinow,4 and Feingold and Bull5 have broad¬ ened the description of the phenotype of individuals with the syndrome and have made the pattern of inheritance less clear." We report here the results of detailed studies of an additional case that showed marked digital, oral, and middle ear anomalies not previ¬ ously noted. REPORT OF A CASEThe patient was first seen at the Johns Hopkins Hospital at 13 years of age for evaluation of short stature and genital hypoplasia. He was the product of a fullterm pregnancy of a 27-year-old, gravida 4, para 4 mother, and a 35-year-old unre¬ lated father. His birth weight was 2,950 gm (6.5 lb). Sex identity was initially un¬ certain because of bilateral cryptorchidism and micropenis. He was also noted to have a relatively large head, midfacial hypo-plasia, and unusual facies. No neonatal problems occurred, and initial growth and development were normal.The first deciduous tooth erupted at 7 months of age. The deciduous teeth failed to exfoliate normally, and several were ex¬ tracted to allow eruption of their perma¬ nent successors. The first permanent tooth did not erupt until 8 years of age.An umbilical hernia was repaired at 1year of age. At 8 years of age, a five-week course of human chorionic gonadotropins (three injections weekly) failed to alter the cryptorchidism. However, it did lead to the appearance of pubic hair. At 9 years of age, he underwent myringotomies with in¬ sertion of polyethylene tubes for correction of a conductive hearing loss secondary to chronic serous otitis media. At 10 years of age, a right orchiorrhaphy was unsuccess¬ ful due to vascular compromise of the tes¬ tis. At 11 years of age, a left orchiorrhaphy brought the testis to the upper part of the scrotum only. He performed on an age-ap¬ propriate level in school.The father was 178 cm (5 ft 11 inches) tall and the mother was 157.5 cm (5 ft 3 inches) tall. Siblings included a 20-year-old brother 178 cm (5 ft 11 inches) tall, a 17year-old sister 162.5 cm (5 ft 5 inches) tall, and a 15-year-old sister 167.5 cm (5 ft 7 inches) in height. None exhibited any fa¬ cial, digital, or genital anomalies and all were in good health. Physical ExaminationAt 13 years 2 months his height was 146.5 cm (4 ft 10% inches) (tenth percen¬ tile) and his weight 35.6 kg (78.5 lb) (tenth percentile). His arm span was 140 cm (4 ft 8 inches) (at 13 years of age, the arm span normally exceeds the height by 3 cm [1.2 inches]).' The upper segment measure¬ ment was 75.3 cm (30.1 inches) and the lower segment was 71 cm (28.4 inches), Fig 1.-Patient at 13 years of age.with upper ...

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The Facial-Digital-Genital (Aarskog) Syndrome

Cited by 23 publications

References 5 publications

Aarskog syndrome in a brazilian boy born to consanguineous parents

Aarskog syndrome in a brazilian boy born to consanguineous parents

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

The Robinow Syndrome

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