American Journal of Medical Genetics 39:223-224 (1991)
Letter to the Editor New Lethal Acrofacial Dysostosis Syndrome To the Editor: In the last issue of this Journal we read with interest the paper by Rodriguez et al. [1990] “New acrofacial dysostosis syndrome in 3 sibs.” The authors reported on a n apparently new syndrome characterized by mandibulofacial dysostosis, predominantly preaxial limb deficiencies, rare postaxial limb deficiencies, shoulder/ pelvis girdle hypoplasia, cardiac and CNS malformations. We had the occasion to examine a similar patient with a malformation complex closely resembling that in patient 3 of Rodriguez et al.: malar and mandibular hypoplasia, radioulnar synostosis, and preaxial limb deficiencies. The newborn male infant was the first-born of healthy, unrelated parents. The mother and father were 26 and 30 years old, respectively. Pregnancy was normal but after 7 months of gestation partus was imminent and a polymalformed, dysmature foetus was born (birthweight 690 g). Apgar score was 2 and despite intensive care the child died 6 hours after birth. He had severe mandibulofacial dysostosis combined with preaxial deficiencies of upper limbs (Figs. 1, 2). Besides severe microretrognathia and relative hypo-
Fig. 2. Full view of infant with mandibulofacial dysostosis and preaxial limb deficiencies.
Fig. 1. Lateral view of infant with severe mandibulofacial dysostosis.
Fkceived for publication May 17, 1990.
0 1991 Wiley-Liss, Inc.
plasia of the zygomatic arch, he had a slight antimongoloid slant of the palpebral fissures, broad nasal bridge with big nose, macrostomia, apparently low-set, poorly lobulated ears, rotated in anterio-posterior position, and a short, broad neck. The head was characteristically elongated with increased glabella-opisthocranion diameter. Both upper limbs also presented remarkable abnormalities: limitation of elbow joint movements with radioulnar synostosis, bilateral lack of thenar eminence, absent thumb on the right and rudimentary thumb on
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the left, appearing a s a 2 cm long skin appendix without nail. X-ray examination confirmed the radioulnar synostosis, and the bilateral absence of the first ray. No ossification in the appendix of the left hand was present. Autopsy of the fetus documented atrial and ventricular defects. This new autosomal recessively inherited condition seems to be (sub)lethal at birth due to the presence of severe mandibular hypoplasia which causes serious respiratory complications.
REFERENCES Rodriguez JI, Palacios J, Urioste M (1990):New acrofacial dysostosis in 3 sibs. Am J Med Genet 35:484-489.
Jean-Pierre F’ryns Alice Kleckowska Centre for Human Genetics University of Leuven B-3000 Leuven Belgium
Letter to the Editor New Lethal Acrofacial Dysostosis Syndrome To the Editor: In the last issue of this Journal we read with interest the paper by Rodriguez et al. [1990] “New acrofacial dysostosis syndrome in 3 sibs.” The authors reported on a n apparently new syndrome characterized by mandibulofacial dysostosis, predominantly preaxial limb deficiencies, rare postaxial limb deficiencies, shoulder/ pelvis girdle hypoplasia, cardiac and CNS malformations. We had the occasion to examine a similar patient with a malformation complex closely resembling that in patient 3 of Rodriguez et al.: malar and mandibular hypoplasia, radioulnar synostosis, and preaxial limb deficiencies. The newborn male infant was the first-born of healthy, unrelated parents. The mother and father were 26 and 30 years old, respectively. Pregnancy was normal but after 7 months of gestation partus was imminent and a polymalformed, dysmature foetus was born (birthweight 690 g). Apgar score was 2 and despite intensive care the child died 6 hours after birth. He had severe mandibulofacial dysostosis combined with preaxial deficiencies of upper limbs (Figs. 1, 2). Besides severe microretrognathia and relative hypo-
Fig. 2. Full view of infant with mandibulofacial dysostosis and preaxial limb deficiencies.
Fig. 1. Lateral view of infant with severe mandibulofacial dysostosis.
Fkceived for publication May 17, 1990.
0 1991 Wiley-Liss, Inc.
plasia of the zygomatic arch, he had a slight antimongoloid slant of the palpebral fissures, broad nasal bridge with big nose, macrostomia, apparently low-set, poorly lobulated ears, rotated in anterio-posterior position, and a short, broad neck. The head was characteristically elongated with increased glabella-opisthocranion diameter. Both upper limbs also presented remarkable abnormalities: limitation of elbow joint movements with radioulnar synostosis, bilateral lack of thenar eminence, absent thumb on the right and rudimentary thumb on
224
Fryns and Kleczkowska
the left, appearing a s a 2 cm long skin appendix without nail. X-ray examination confirmed the radioulnar synostosis, and the bilateral absence of the first ray. No ossification in the appendix of the left hand was present. Autopsy of the fetus documented atrial and ventricular defects. This new autosomal recessively inherited condition seems to be (sub)lethal at birth due to the presence of severe mandibular hypoplasia which causes serious respiratory complications.
REFERENCES Rodriguez JI, Palacios J, Urioste M (1990):New acrofacial dysostosis in 3 sibs. Am J Med Genet 35:484-489.
Jean-Pierre F’ryns Alice Kleckowska Centre for Human Genetics University of Leuven B-3000 Leuven Belgium
