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May 1974, Vol 127, No. 5 >
Article | May 1974

Familial Occurrence of Noonan Syndrome FREE

Qutub H. Qazi, MB, BS, PhD; Rica G. Arnon, MD; Mansureh H. Paydar, MD; Helouise C. Mapa, MD
[+] Author Affiliations

Received for publication Feb 7, 1973; accepted Nov 14.

Reprint requests to Department of Pediatrics, Downstate Medical Center, 450 Clarkson Ave, Brooklyn, NY 11203 (Dr. Qazi).


Am J Dis Child. 1974;127(5):696-698. doi:10.1001/archpedi.1974.02110240082011.
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References
Comments

In the past ten years, almost every mode of inheritance, including sex-linked dominant, has been proposed for the Noonan syndrome. The occurrence of the phenotype in father and son reported in this and two other communications makes X-linked dominant hypothesis untenable. It appears that the inheritance of the Noonan syndrome could best be explained by an autosomal dominant gene with variable expressivity. The proband, in the present communication, had truncus arteriosis type 4, not previously described in this syndrome.

REFERENCES

1 +
Summitt RL:  Turner syndrome and Noonan's syndrome . J Pediatr 74:155-156, 1969;.
2 +
Char F, et al:  The Noonan syndrome: A clinical study of 45 cases . Birth Defects: Original Article Series 8:110-118, 1972;.
3 +
Oikawa K, Blizzard R:  Chromosomal studies of patients with congenital anomalies simulating those of gonadal aplasia . New Engl J Med 264:1009-1016, 1961;.
4 +
Alide MC, et al:  Turner's syndrome in a phenotypic male with XO/XY mosaicism and autosomal aberrations . J Med Genet 3:220-225, 1966;.
5 +
Heller RH:  The Turner phenotype in the male . J Pediatr 66:48-63, 1965;.
6 +
Summitt RL:  The Noonan syndrome . Birth Defects: Original Article Series 5:39-42, 1969;.
7 +
Nora JJ, Sinha AK:  Inheritance of the Turner phenotype . Birth Defects: Original Article Series 5:29-35, 1969;.
8 +
Levy EP, et al:  XX and XY Turner phenotypes in a family . Am J Dis Child 120:36-43, 1970;.
9 +
Dupuis C, et al:  Le syndrome dit de Turner male . Arch Fr Pediatr 25:511-530, 1968;.
10 +
Jackson LG, Lefrak S:  Familial occurrence of the Noonan syndrome . Birth Defects: Original Article Series 5:36-38, 1969;.
11 +
Abdel-Salam E, Temtamy SA:  Familial Turner phenotype . J Pediatr 74:67- 72, 1969;.
12 +
Chaves-Carballo E, Hayles AB:  Ull-rich-Turner syndrome in the male: Review of the literature and report of a case with lymphocyte (Hashimoto's) thyroiditis . Mayo Clin Proc 41:843-854, 1966;.
13 +
Koretzky ED, et al:  Congenital pulmonary stenosis resulting from dysplasia of valve . Circulation 40:43-53, 1969;.
14 +
Rodriguez-Fernandez HL, et al:  The dysplastic pulmonic valve and the Noonan syndrome . Circulation 46( (Suppl 2) ):98, 1972;.
15 +
Wright NL, Summitt RL, Ainger LE:  Noonan's syndrome and Ebstein's malformation of the tricuspid valve . Am J Dis Child 116:367-372, 1968;.
16 +
Ehlers RH, et al:  Eccentric ventricular hypertrophy in familial and sporadic instances of 46 XX, XY Turner phenotype . Circulation 45:639-652, 1972;.
17 +
Noonan JA:  Noonan syndrome (Comments) . Birth Defects: Original Article Series 8:122-124, 1972;.
18 +
Kaplan MS, Opitz JM, Gosset FR:  Noonan's syndrome: A case with elevated alkaline phosphatase levels and malignant schwannoma of the left forearm . Am J Dis Child 116:359-366, 1968;.
19 +
Polani PE, Angell R, Polani N:  Ull-rich's syndrome . Lancet 2:421, 1967;.
20 +
Nora JJ, Sinha AK, Nora AH:  Dominant inheritance of the Noonan syndrome . Birth Defects: Original Article Series 8:119-121, 1972;.

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References

1 +
Summitt RL:  Turner syndrome and Noonan's syndrome . J Pediatr 74:155-156, 1969;.
2 +
Char F, et al:  The Noonan syndrome: A clinical study of 45 cases . Birth Defects: Original Article Series 8:110-118, 1972;.
3 +
Oikawa K, Blizzard R:  Chromosomal studies of patients with congenital anomalies simulating those of gonadal aplasia . New Engl J Med 264:1009-1016, 1961;.
4 +
Alide MC, et al:  Turner's syndrome in a phenotypic male with XO/XY mosaicism and autosomal aberrations . J Med Genet 3:220-225, 1966;.
5 +
Heller RH:  The Turner phenotype in the male . J Pediatr 66:48-63, 1965;.
6 +
Summitt RL:  The Noonan syndrome . Birth Defects: Original Article Series 5:39-42, 1969;.
7 +
Nora JJ, Sinha AK:  Inheritance of the Turner phenotype . Birth Defects: Original Article Series 5:29-35, 1969;.
8 +
Levy EP, et al:  XX and XY Turner phenotypes in a family . Am J Dis Child 120:36-43, 1970;.
9 +
Dupuis C, et al:  Le syndrome dit de Turner male . Arch Fr Pediatr 25:511-530, 1968;.
10 +
Jackson LG, Lefrak S:  Familial occurrence of the Noonan syndrome . Birth Defects: Original Article Series 5:36-38, 1969;.
11 +
Abdel-Salam E, Temtamy SA:  Familial Turner phenotype . J Pediatr 74:67- 72, 1969;.
12 +
Chaves-Carballo E, Hayles AB:  Ull-rich-Turner syndrome in the male: Review of the literature and report of a case with lymphocyte (Hashimoto's) thyroiditis . Mayo Clin Proc 41:843-854, 1966;.
13 +
Koretzky ED, et al:  Congenital pulmonary stenosis resulting from dysplasia of valve . Circulation 40:43-53, 1969;.
14 +
Rodriguez-Fernandez HL, et al:  The dysplastic pulmonic valve and the Noonan syndrome . Circulation 46( (Suppl 2) ):98, 1972;.
15 +
Wright NL, Summitt RL, Ainger LE:  Noonan's syndrome and Ebstein's malformation of the tricuspid valve . Am J Dis Child 116:367-372, 1968;.
16 +
Ehlers RH, et al:  Eccentric ventricular hypertrophy in familial and sporadic instances of 46 XX, XY Turner phenotype . Circulation 45:639-652, 1972;.
17 +
Noonan JA:  Noonan syndrome (Comments) . Birth Defects: Original Article Series 8:122-124, 1972;.
18 +
Kaplan MS, Opitz JM, Gosset FR:  Noonan's syndrome: A case with elevated alkaline phosphatase levels and malignant schwannoma of the left forearm . Am J Dis Child 116:359-366, 1968;.
19 +
Polani PE, Angell R, Polani N:  Ull-rich's syndrome . Lancet 2:421, 1967;.
20 +
Nora JJ, Sinha AK, Nora AH:  Dominant inheritance of the Noonan syndrome . Birth Defects: Original Article Series 8:119-121, 1972;.

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