CORRESPONDENCE

Response to ‘‘Lateral Meningocele Syndrome andHajdu–Cheney Syndrome: Different Disorders WithOverlapping Phenotypes’’ by GrippKristiina Avela,1* and Outi M€akitie2

1V€aest€oliitto, The Family Federation of Finland, Department of Medical Genetics, Helsinki, Finland2The Hospital for Children and Adolescents, Helsinki University Central Hospital, Helsinki, Finland

Received 24 March 2011; Accepted 7 April 2011

TO THE EDITOR:We are grateful for the important correspondence by Dr. Karen W.

Gripp [2011]. The findings in our patient indeed closely resemble

those reported in lateral meningocele syndrome. As Dr. Gripp

states acro-osteolysis has not been reported in the lateral

meningocele syndrome. The distal phalanges of the first toes in

our patient were suggestive of acro-osteolysis and also the bone

resorption marker urine N-telopeptide of type I collagen (U-NTx)

was significantly elevated suggesting increased osteolysis. Our

patient’s facial appearance resembles that of patients with

lateral meningocele syndrome, but they are also similar to the

Hajdu–Cheney syndrome patients reported by Ad�es et al. [1993]

and Tanimoto et al. [1996]. Both of these patients presented with

acro-osteolysis but did not have lateral meningocele or dural

ectasia.

The full phenotype of the Hajdu–Cheney syndrome typically

presents in adulthood with relatively subtle facial changes

[Brennan and Pauli, 2001]. One may wonder whether there

actually exist two subtypes of the syndrome: the more common

adult-onset form with subtle facial findings [Brennan and Pauli,

2001] in addition to the typical Hajdu–Cheney skeleton, and a

rare congenital form with major malformations and a distinctive

facial appearance [Ad�es et al., 1993; Tanimoto et al., 1996; Avela et

al., 2011].

Our patient presents with manifestations of lateral meningocele

syndrome and Hajdu–Cheney syndrome. We agree with Dr.

Gripp that these conditions may be due to mutations in genes

whose products interact with each other, or affect the same

pathway.

REFERENCES

Ad�es LC, Morris LL, Haan EA. 1993. Hydrocephalus in Hajdu–Cheneysyndrome. J Med Genet 30:175.

Avela K, Valanne L, Helenius I, M€akitie O. 2011. Hajdu–Cheney syndromewith severe dural ectasia. Am J Med Genet Part A 155:595–598.

Brennan A, Pauli RM. 2001. Hajdu–Cheney syndrome: Evolution ofphenotype and clinical problems. Am J Med Genet 100:292–310.

Gripp K. 2011. Lateral meningocele syndrome and Hajdu–Cheney syn-drome: Different disorders with overlapping phenotypes. Am J MedGenet 155(in press).

Tanimoto A, Tamaki N, Nagashima T, Nakamura M. 1996. Syringomyeliaassociated with Hajdu–Cheney syndrome: Case report. Neurosurgery39:400–403.

*Correspondence to:

Kristiina Avela, M.D., Ph.D., V€aestoliitto, The Family Federation of

Finland, Department of Medical Genetics, P.O. Box 849, FIN-00101

Helsinki, Finland. E-mail: kristiina.avela@vaestoliitto.fi

Published online 9 June 2011 in Wiley Online Library

(wileyonlinelibrary.com).

DOI 10.1002/ajmg.a.34085

How to Cite this Article:Avela K, M€akitie O. 2011. Response to

‘‘Lateral Meningocele Syndrome and

Hajdu–Cheney Syndrome: Different

Disorders With Overlapping Phenotypes’’ by

Gripp.

Am J Med Genet Part A 155:1775.

� 2011 Wiley-Liss, Inc. 1775