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August 1973, Vol 126, No. 2 >
Article | August 1973

The Facial-Digital-Genital (Aarskog) Syndrome FREE

Gerald I. Sugarman, MD; David L. Rimoin, MD, PhD; Ralph S. Lachman, MD
[+] Author Affiliations

Received for publication Feb 26, 1973; accepted April 5.

Reprint requests to 3325 Division St, Los Angeles, CA 90065 (Dr. Sugarman).


Am J Dis Child. 1973;126(2):248-252. doi:10.1001/archpedi.1973.02110190218022.
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A Mexican-American family in which two half brothers and their two maternal uncles are affected with the facial-digital-genital (Aarskog) syndrome is described. This syndrome is characterized by short stature, peculiar facies, abnormalities of the hands and feet, and a saddle anomaly of the scrotum. An obligate heterozygote in this kindred was found to have the hand and foot anomalies characteristic of the affected members of her family. This syndrome appears to be inherited as an autosomal dominant trait with partial expression in women.

REFERENCES

1 +
Aarskog D:  A familial syndrome of short stature associated with facial dysplasia and genital anomalies . J Pediatr 77:856-861, 1970;.
2 +
Aarskog D:  A familial syndrome of short stature associated with facial dysplasia and genital anomalies , in The Clinical Delineation of Birth Defects: X. The Endocrine System . Baltimore, Williams & Wilkins, 1971;, pp 235-239.
3 +
Scott CI Jr:  Unusual facies, joint hypermobility, genital anomaly and short stature: A new dysmorphic syndrome , in The Clinical Delineation of Birth Defects: X. The Endocrine System . Baltimore, Williams & Wilkins, 1971;, pp 240-246.
4 +
Furukawa CT, Hall BD, Smith DW:  The Aarskog syndrome . J Pediatr 81:1117-1122, 1972;.
5 +
Welch JP, Temtamy SA:  Hereditary contractures of the fingers . J Med Genet 3:104-113, 1966;.
6 +
Hanley WB, McKusick V, Barranci FT:  Osteochondritis dissecans with associated malformation in two brothers . J Bone Joint Surg 44A:925-937, 1967;.
7 +
Hansman CF:  Growth of interorbital distance and skull thickness as observed in roetgenographic measurements . Radiology 86:87-96, 1966;.
8 +
Dudding B. Gorlin RJ, Langer L:  The otopalato-digital syndrome: A new symptom-complex consisting of deafness, dwarfism, cleft palate, characteristic facies, and a generalized bone dysplasia . Am J Dis Child 113:214-221, 1967;.
9 +
Rimoin DL:  Pachydermoperiostosis (idiopathic clubbing and periostosis): Genetic and physiological considerations . N Engl J Med 272:923-931, 1965;.

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References

1 +
Aarskog D:  A familial syndrome of short stature associated with facial dysplasia and genital anomalies . J Pediatr 77:856-861, 1970;.
2 +
Aarskog D:  A familial syndrome of short stature associated with facial dysplasia and genital anomalies , in The Clinical Delineation of Birth Defects: X. The Endocrine System . Baltimore, Williams & Wilkins, 1971;, pp 235-239.
3 +
Scott CI Jr:  Unusual facies, joint hypermobility, genital anomaly and short stature: A new dysmorphic syndrome , in The Clinical Delineation of Birth Defects: X. The Endocrine System . Baltimore, Williams & Wilkins, 1971;, pp 240-246.
4 +
Furukawa CT, Hall BD, Smith DW:  The Aarskog syndrome . J Pediatr 81:1117-1122, 1972;.
5 +
Welch JP, Temtamy SA:  Hereditary contractures of the fingers . J Med Genet 3:104-113, 1966;.
6 +
Hanley WB, McKusick V, Barranci FT:  Osteochondritis dissecans with associated malformation in two brothers . J Bone Joint Surg 44A:925-937, 1967;.
7 +
Hansman CF:  Growth of interorbital distance and skull thickness as observed in roetgenographic measurements . Radiology 86:87-96, 1966;.
8 +
Dudding B. Gorlin RJ, Langer L:  The otopalato-digital syndrome: A new symptom-complex consisting of deafness, dwarfism, cleft palate, characteristic facies, and a generalized bone dysplasia . Am J Dis Child 113:214-221, 1967;.
9 +
Rimoin DL:  Pachydermoperiostosis (idiopathic clubbing and periostosis): Genetic and physiological considerations . N Engl J Med 272:923-931, 1965;.

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