American Journal of Medical Genetics 42:851 (1992)
Letter to the Editor Acrofacial Dysostosis Syndromes To the Editor: We have read with interest the recent letter by F‘ryns and Kleckowska [1991]. They reported a patient whom they considered a further example of the “New Acrofacia1 Dysostosis Syndrome” reported by us [Rodriguez et al., 19901. We would like to comment on some aspects which lead us to think that their patient should not be classified as having this condition. The lack of a cytogenetic study in the patient reported by F’ryns and Kleckowska makes an accurate diagnosis very difficult. Severe forms of microretrognathia with first ray defects in the upper limbs can be seen in some chromosomal aberrations. Furthermore, other anomalies present in the patient, such as low birthweight (P < 3), prominent occiput, apparently low-set, posteriorly angulated and poorly lobulated ears, a short and broad neck and cardiopathy, suggest that trisomy 18should be taken into account. The existence in this patient of a severe mandibular hypoplasia with preaxial upper limb defects (absent thumb on the right and rudimentary thumb on the left, and radioulnar synostosis), but without lower limb defects or other skeletal and internal anomalies, could favour a diagnosis of Nager acrofacial dysostosis (AFD) more than one of the new acrofacial dysostosis syndrome reported by us [Rodriguez et al., 19901. The patient, who died shortly after birth, also had atrial and ventricular septa1 defects. Lethal cases of Nager AFD and Nager AFD associated with cardiac defects have been reported [Halal et al., 1983; Thompson et al., 19851. On the other hand, Opitz [19871 has suggested that Nager AFD should be considered an “anomaly” rather than a syndrome, due to the apparent causal heterogeneity of this AFD. Thus, the existence of a pattern of
Fkceived for publication July 18, 1991. Address reprint requests to Jose Ignacio Rodriguez, Department of Pathology, Hospital La Paz, Castellana 261, E-28046 Madrid, Spain.
0 1992 Wiley-Liss, Inc.
anomalies consistent with Nager AFD in the patient reported by F’ryns and Kleckowska [1991], as well as in our patient 3 (who only showed a mandibulofacial dysostosis with bilateral thumb hypoplasia and bilateral radioulnar synostosis), which probably represent different conditions, would support Opitz’s hypothesis.
REFERENCES Fryns JP, Kleckowska A (1991):New lethal acrofacial dysostosis syndrome. Am J Med Genet 39:223-224. Halal F, Herrmann J, Pallister PD, Opitz JM, Desgranges MF, Grenier G (1983):Differential diagnosis of Nager acrofacial dysostosis syndrome: Report of four patients with Nager syndrome and discussion of other related syndromes. Am J Med Genet 14:209-224. Opitz JM (1987): Nager “syndrome”versus Nager “anomaly”and its nosology with the postaxial acrofacial syndrome ofGenee and Wiedemann. Am J Med Genet 27:959-963. Rodriguez JI, Palacios J, Urioste M (1990): New acrofacial dysostosis syndrome in 3 sibs. Am J Med Genet 35:484-489. Thompson E, Cadbury R, Baraitser M (1985): The Nager acrofacial dysostosis syndrome with the tetralogy of Fallot. J Med Genet 22:408-410.
Jose Ignacio Rodriguez Jose Palacios Department of Pathology Hospital La Paz Castellana 261 Madrid, Spain
Miguel Urioste Estudio Colaborativo Espanol de Malformaciones Congenitas (ECEMC) School of Medicine University Complutense Madrid, Spain
Letter to the Editor Acrofacial Dysostosis Syndromes To the Editor: We have read with interest the recent letter by F‘ryns and Kleckowska [1991]. They reported a patient whom they considered a further example of the “New Acrofacia1 Dysostosis Syndrome” reported by us [Rodriguez et al., 19901. We would like to comment on some aspects which lead us to think that their patient should not be classified as having this condition. The lack of a cytogenetic study in the patient reported by F’ryns and Kleckowska makes an accurate diagnosis very difficult. Severe forms of microretrognathia with first ray defects in the upper limbs can be seen in some chromosomal aberrations. Furthermore, other anomalies present in the patient, such as low birthweight (P < 3), prominent occiput, apparently low-set, posteriorly angulated and poorly lobulated ears, a short and broad neck and cardiopathy, suggest that trisomy 18should be taken into account. The existence in this patient of a severe mandibular hypoplasia with preaxial upper limb defects (absent thumb on the right and rudimentary thumb on the left, and radioulnar synostosis), but without lower limb defects or other skeletal and internal anomalies, could favour a diagnosis of Nager acrofacial dysostosis (AFD) more than one of the new acrofacial dysostosis syndrome reported by us [Rodriguez et al., 19901. The patient, who died shortly after birth, also had atrial and ventricular septa1 defects. Lethal cases of Nager AFD and Nager AFD associated with cardiac defects have been reported [Halal et al., 1983; Thompson et al., 19851. On the other hand, Opitz [19871 has suggested that Nager AFD should be considered an “anomaly” rather than a syndrome, due to the apparent causal heterogeneity of this AFD. Thus, the existence of a pattern of
Fkceived for publication July 18, 1991. Address reprint requests to Jose Ignacio Rodriguez, Department of Pathology, Hospital La Paz, Castellana 261, E-28046 Madrid, Spain.
0 1992 Wiley-Liss, Inc.
anomalies consistent with Nager AFD in the patient reported by F’ryns and Kleckowska [1991], as well as in our patient 3 (who only showed a mandibulofacial dysostosis with bilateral thumb hypoplasia and bilateral radioulnar synostosis), which probably represent different conditions, would support Opitz’s hypothesis.
REFERENCES Fryns JP, Kleckowska A (1991):New lethal acrofacial dysostosis syndrome. Am J Med Genet 39:223-224. Halal F, Herrmann J, Pallister PD, Opitz JM, Desgranges MF, Grenier G (1983):Differential diagnosis of Nager acrofacial dysostosis syndrome: Report of four patients with Nager syndrome and discussion of other related syndromes. Am J Med Genet 14:209-224. Opitz JM (1987): Nager “syndrome”versus Nager “anomaly”and its nosology with the postaxial acrofacial syndrome ofGenee and Wiedemann. Am J Med Genet 27:959-963. Rodriguez JI, Palacios J, Urioste M (1990): New acrofacial dysostosis syndrome in 3 sibs. Am J Med Genet 35:484-489. Thompson E, Cadbury R, Baraitser M (1985): The Nager acrofacial dysostosis syndrome with the tetralogy of Fallot. J Med Genet 22:408-410.
Jose Ignacio Rodriguez Jose Palacios Department of Pathology Hospital La Paz Castellana 261 Madrid, Spain
Miguel Urioste Estudio Colaborativo Espanol de Malformaciones Congenitas (ECEMC) School of Medicine University Complutense Madrid, Spain
