American Journal of Medical Genetics 70:454 (1997)
Letter to the Editor
Not a New Seckel-Like Syndrome But
Ear-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-natal
growth retardation, microcephaly, retarded bone age,
prominent eyes, microtia and ear malformations, small
mouth 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 of
the girls (2 years), and in the other, the last assessment
was at age 34 months.
We were impressed with the similarity between their
cases and those we have described previously as the
ear-patella-short stature syndrome (Meier-Gorlin syn-
drome) [reviewed recently by Boles et al., 1994]. Based
on eight reported cases this syndrome comprises IUGR
and post-natal growth retardation, microcephaly, re-
tarded bone age, microtia and malformed ears, small
mouth and full lips, micrognathia, clinodactyly of the
5th finger, and absent or hypoplastic patellae. Intelli-
gence was variable. IQ was less than 60 in one of the
two cases reported by Hurst et al. [1988] and was de-
scribed as low normal in the case reported by Gorlin et
al. [1975]. It was normal in the cases reported by Cohen
et al. [1991] and Boles et al. [1994]. No information in
this 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 was
not available. Prominent eyes were noted in the Boles
et al. [1996] cases. Absent or hypoplastic patella, a car-
dinal finding in ear-patella-short stature syndrome,
*Correspondence to: Dr. A.S. Teebi, The Montreal Children’s
Hospital, Division of Medical Genetics, 2300 Tupper Street, Mon-
treal, Quebec, Canada, H3H 1P3.
Received 11 September 1996; Accepted 7 November 1996
© 1997 Wiley-Liss, Inc.
was not found in one of the reported cases. None of the
eight cases had cleft soft palate. We think that the
cases of Buebel et al. [1996] are further examples of the
ear-patella-short stature syndrome which belongs to
the ‘‘community of syndromes’’ of proportionate short
stature 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 to
know about the patellae in the cases of Buebel et al.
[1996] in order to have an idea about the weight of this
trait.
REFERENCES
Buebel MS, Salinas CF, Pai GS, Macpherson RI, Greer MK, Perez-Comas
A (1996): A new Seckel-like syndrome of primordial dwarfism. Am J
Med Genet 64:447–452.
Boles RG, Teebi AS, Schwartz D, Harper JF (1994): Further delineation of
the ear, patella, short stature syndrome (Meier-Gorlin syndrome). Clin
Dysmorphol 3:207–214.
Cohen B, Temple IK, Symons JC, Hall CM, Shaw DG, Bhamra M, Jackson
AM, 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): A
selected miscellany. Birth Defects 11:39–50.
Hurst JA, Winter RM, Baraitser M (1988): Distinctive syndrome of short
stature, craniosynostosis, skeletal changes and malformed ears. Am J
Med Genet 29:107–115.
Meier VZ, Poschiavo, Rothschild M (1959): Ein Fall von Arthrogryposis
multiplex congenita kombiniert mit Dysostosis mandibulofacialis
(Franceschetti-syndrom). Helv Paediatr Acta 2:213–216.
Ahmad S. Teebi*
Division of Medical Genetics
The Montreal Children’s Hospital
Montreal, Quebec, Canada
Robert J. Gorlin
Department of Oral Pathology and Genetics
University of Minnesota
Minneapolis, Minnesota