not a new seckel-like syndrome but ear-patella-short stature syndrome

Letter to the Editor

Not a New Seckel-Like Syndrome ButEar-Patella-Short Stature Syndrome

To The Editor:

We read with interest the article of Buebel et al.[1996] describing presumably a new Seckel-like syn-drome of primordial dwarfism in two unrelated chil-dren. The syndrome comprises IUGR with post-natalgrowth retardation, microcephaly, retarded bone age,prominent eyes, microtia and ear malformations, smallmouth with full lips, micrognathia, cleft soft palate,clinodactyly of 5th finger, clitoromegaly, mild to mod-erate mental retardation, and other anomalies. Devel-opmental assessment was not formally done in one ofthe girls (2 years), and in the other, the last assessmentwas at age 34 months.

We were impressed with the similarity between theircases and those we have described previously as theear-patella-short stature syndrome (Meier-Gorlin syn-drome) [reviewed recently by Boles et al., 1994]. Basedon eight reported cases this syndrome comprises IUGRand post-natal growth retardation, microcephaly, re-tarded bone age, microtia and malformed ears, smallmouth and full lips, micrognathia, clinodactyly of the5th finger, and absent or hypoplastic patellae. Intelli-gence was variable. IQ was less than 60 in one of thetwo cases reported by Hurst et al. [1988] and was de-scribed as low normal in the case reported by Gorlin etal. [1975]. It was normal in the cases reported by Cohenet al. [1991] and Boles et al. [1994]. No information inthis regard is available about the Meier et al. [1959]case and one of the cases reported by Hurst et al.[1988]. Clitoromegaly was found in two of the four re-ported cases, while in the other two, information wasnot available. Prominent eyes were noted in the Boleset al. [1996] cases. Absent or hypoplastic patella, a car-dinal finding in ear-patella-short stature syndrome,

was not found in one of the reported cases. None of theeight cases had cleft soft palate. We think that thecases of Buebel et al. [1996] are further examples of theear-patella-short stature syndrome which belongs tothe ‘‘community of syndromes’’ of proportionate shortstature such as Seckel primordial dwarfism, Russell-Silver syndrome, 3M syndrome, ‘‘gloomy face syn-drome’’ and others [Boles et al., 1994]. The best indi-cator of remarkable similarities is to compare photo-graphs of the Buebel et al. [1996] and Boles et al. [1994]patients and other patients. It would be important toknow about the patellae in the cases of Buebel et al.[1996] in order to have an idea about the weight of thistrait.

REFERENCESBuebel MS, Salinas CF, Pai GS, Macpherson RI, Greer MK, Perez-Comas

A (1996): A new Seckel-like syndrome of primordial dwarfism. Am JMed Genet 64:447–452.

Boles RG, Teebi AS, Schwartz D, Harper JF (1994): Further delineation ofthe ear, patella, short stature syndrome (Meier-Gorlin syndrome). ClinDysmorphol 3:207–214.

Cohen B, Temple IK, Symons JC, Hall CM, Shaw DG, Bhamra M, JacksonAM, Pembrey ME (1991): Microtia and short stature: A new syndrome.J Med Genet 28:786–790.

Gorlin RJ, Cervenka J, Moller K, Horrobin M, Witkop CJ Jr (1975): Aselected miscellany. Birth Defects 11:39–50.

Hurst JA, Winter RM, Baraitser M (1988): Distinctive syndrome of shortstature, craniosynostosis, skeletal changes and malformed ears. Am JMed Genet 29:107–115.

Meier VZ, Poschiavo, Rothschild M (1959): Ein Fall von Arthrogryposismultiplex congenita kombiniert mit Dysostosis mandibulofacialis(Franceschetti-syndrom). Helv Paediatr Acta 2:213–216.

Ahmad S. Teebi*Division of Medical GeneticsThe Montreal Children’s HospitalMontreal, Quebec, Canada

Robert J. GorlinDepartment of Oral Pathology and GeneticsUniversity of MinnesotaMinneapolis, Minnesota

*Correspondence to: Dr. A.S. Teebi, The Montreal Children’sHospital, Division of Medical Genetics, 2300 Tupper Street, Mon-treal, Quebec, Canada, H3H 1P3.

Received 11 September 1996; Accepted 7 November 1996

American Journal of Medical Genetics 70:454 (1997)

© 1997 Wiley-Liss, Inc.