American Journal of Medical Genetics 40252 (1991)
Letter to the Editor Craniosynostosis in the Ullrich-Turner Syndrome To the Editor: Referring to the editorial letter from Cohen U9891 about craniosynostosis in the Ullrich-Turner syndrome (UTS), we wish to add two further observations. The first patient is a female born at term after an uneventful pregnancy, with a weight of 2,880 g ( - 0.9 DS), a length of 49 cm ( - 0.25 DS), and a head circumference of 32 cm (-1.25 DS). Skull deformity (trigonocephaly) was noted at birth. The skull radiograph showed a metopic craniosynostosis. Neurosurgical intervention was performed at age 2 months. In view of this malformation, a chromosome analysis was performed from peripheral blood lymphocytes, showing a mosaic 45W46XX with 45% XO and 55% XX. The only clinical signs of UTS were low-set ears, low posterior hairline, wide spacing of nipples, and deep-set nails. At age 1 year, the height was 71.5 cm ( - 1DS), the head circumference was 45.8 cm ( - 0.2 DS), and the psychomotor development and neurological examination were normal. The second patient is a female born at term, after an uneventful pregnancy, with a weight of 2,370 g ( - 1.8 DS), a length of 43.5 cm ( - 3.09 DS), and a head circumference of 30 cm ( - 2.5 DS). At birth, the diagnosis of UTS was suspected on clinical grounds of peripheral lymphedema, short neck, low nuchal hairline, epicanthal folds, high palate, and broad chest with widely
Address reprint requests to: Dr. C. Heinrichs, HBpital Universitaire des Enfants Reine Fabiola, avenue J.J. Crocq 15, 1020 Brussels, Belgium. Received for publication August 10, 1990; revision received October 31, 1990.
0 1991 Wiley-Liss, Inc.
spaced nipples. The karyotype showed a complete monosomy X (45,X). At age 6 years, the height was 97.9 cm ( - 3 DS) and the head circumference 48.3 cm ( - 2.3 DS). Within the framework of exploration before growth hormone therapy, sella turcica and skull radiographs were done, showing a lambdoidal craniosynostosis. Psychomotor development and neurological examination were normal. We show one case with early and pronounced craniosynostosis and one with late onset. Therefore, we fully agree with Dr. M. Cohen’s recommendation to karyotype any infant with syndromal craniosynostosis, in whom no monogenic or teratogenic syndrome diagnosis can be made. In addition, we also recommend skull radiographs in patients with UTS in order to detect oligosymptomatic craniosynostosis. This will enable us to determine the frequency of this association.
REFERENCES Cohen M (1989):Craniosynostosisin the Ullrich-Turnersyndrome.Am J Med Genet 35:289-290.
C. Heinrichs C. Elmer M. Derasse Department of Pediatrics HBpital Universitaire des Enfants Reine Rabiola N. Perlmutter Department of Radiology HBpital Universitaire des Enfants Reine Fabiola Brussels, Belgium E. Vamos Department of Genetics HBpital Universitaire Brugmann Free University of Brussels Brussels, Belgium.
Letter to the Editor Craniosynostosis in the Ullrich-Turner Syndrome To the Editor: Referring to the editorial letter from Cohen U9891 about craniosynostosis in the Ullrich-Turner syndrome (UTS), we wish to add two further observations. The first patient is a female born at term after an uneventful pregnancy, with a weight of 2,880 g ( - 0.9 DS), a length of 49 cm ( - 0.25 DS), and a head circumference of 32 cm (-1.25 DS). Skull deformity (trigonocephaly) was noted at birth. The skull radiograph showed a metopic craniosynostosis. Neurosurgical intervention was performed at age 2 months. In view of this malformation, a chromosome analysis was performed from peripheral blood lymphocytes, showing a mosaic 45W46XX with 45% XO and 55% XX. The only clinical signs of UTS were low-set ears, low posterior hairline, wide spacing of nipples, and deep-set nails. At age 1 year, the height was 71.5 cm ( - 1DS), the head circumference was 45.8 cm ( - 0.2 DS), and the psychomotor development and neurological examination were normal. The second patient is a female born at term, after an uneventful pregnancy, with a weight of 2,370 g ( - 1.8 DS), a length of 43.5 cm ( - 3.09 DS), and a head circumference of 30 cm ( - 2.5 DS). At birth, the diagnosis of UTS was suspected on clinical grounds of peripheral lymphedema, short neck, low nuchal hairline, epicanthal folds, high palate, and broad chest with widely
Address reprint requests to: Dr. C. Heinrichs, HBpital Universitaire des Enfants Reine Fabiola, avenue J.J. Crocq 15, 1020 Brussels, Belgium. Received for publication August 10, 1990; revision received October 31, 1990.
0 1991 Wiley-Liss, Inc.
spaced nipples. The karyotype showed a complete monosomy X (45,X). At age 6 years, the height was 97.9 cm ( - 3 DS) and the head circumference 48.3 cm ( - 2.3 DS). Within the framework of exploration before growth hormone therapy, sella turcica and skull radiographs were done, showing a lambdoidal craniosynostosis. Psychomotor development and neurological examination were normal. We show one case with early and pronounced craniosynostosis and one with late onset. Therefore, we fully agree with Dr. M. Cohen’s recommendation to karyotype any infant with syndromal craniosynostosis, in whom no monogenic or teratogenic syndrome diagnosis can be made. In addition, we also recommend skull radiographs in patients with UTS in order to detect oligosymptomatic craniosynostosis. This will enable us to determine the frequency of this association.
REFERENCES Cohen M (1989):Craniosynostosisin the Ullrich-Turnersyndrome.Am J Med Genet 35:289-290.
C. Heinrichs C. Elmer M. Derasse Department of Pediatrics HBpital Universitaire des Enfants Reine Rabiola N. Perlmutter Department of Radiology HBpital Universitaire des Enfants Reine Fabiola Brussels, Belgium E. Vamos Department of Genetics HBpital Universitaire Brugmann Free University of Brussels Brussels, Belgium.
