American Journal of Medical Genetics 37:200-208 (1990)
Chondrodysplasia Punctata, Tibia-Metacarpal (MT) Type M. Rittler, H. Menger, and J. Spranger Department of Pediatrics, University of Mainz, Mainz, Federal Republic of Germany
We describe 7 patients with a new form of chondrodysplasia punctata. Its principal clinical manifestations are flat midface and nose, short limbs, and otherwise normal development. Consistent radiologic manifestations in the newborn infant are discrete calcific stippling, coronal clefts of vertebral bodies, short tibiae, and shortness of the 2nd and 3rd metacarpal bones. Radiologic findings in the older child include shortness of tibiae and the 3rd and 4th metacarpals.
KEY WORDS: short stature, calcific stippling, radiologic manifestations INTRODUCTION Stippled calcifications occur in a heterogeneous group of congenital diseases, such as prenatal infections, warfarin embryopathy [Shaul et al., 1975; Pauli, 19881,alcohol embryopathy [Paditz and Rupprecht, 19851,primary peroxisome defects [Wanders et al., 19881, chromosome anomalies [Hunter et al., 19851, and in various forms of chondrodysplasia punctata. In 1980 and 1982 Burck et al. described 2 patients with a form of chondrodysplasia punctata characterized by marked mesomelic involvement. On the basis of 7 personal observations and several cases from the literature [Haynes and Wangner, 1951; Asanti and Heikel, 1963; Rogers, 19891,we delineate the clinical and radiologic manifestations, natural course and variability of this apparent nosologic entity. CLINICAL REPORTS Patient 1 This boy was born a t term after a pregnancy complicated by polyhydramnios. His birthweight was 3,700 g. Clinical signs noted a t birth were flat face, atrophic skin changes, and a cleft palate. No cataracts were detected.
Received for publication July 10, 1989; revision received February 28, 1990. Address reprint requests to Dr. J. Spranger, Kinderklinik der Johannes Gutenberg Universitat, Langenbeckstr. 1,D-65 Mainz, FGR.
0 1990 Wiley-Liss, Inc.
He also had a flat nose, small mouth, micrognathia, and short neck and limbs (Fig. 1A).Chromosomes were normal. He died a t 3 months of bilateral pneumonia after frequent respiratory infections. Radiographs taken on the 5th day of life showed irregular ossification of the vertebral bodies and sternum, and bilaterally short tibiae, second, and third metacarpals (Fig. 4A).
Patient 2 This girl, the first child of healthy, nonconsanguineous parents, was noted a t birth to have dislocated hips and knees. At 11months her midface was flat, the nasal bridge depressed, mouth and chin were small, the ears cupped and anteverted. She had short lower limbs and single transverse palmar creases (Fig. 1C). Her length, weight, and head circumference (OFC) were all ~ 3 r centile. d Frequent episodes of wheezy bronchitis required repeated hospitalization. She was followed radiologically from birth to the age of one year (Figs. 2B, 6B). Patient 3 Patient 3, a girl, was born after 30 gestational weeks with a weight of 1,030 g. At birth she was noted to have a flat midface, a depressed nasal bridge, and short limbs. She was seen again at age 6 years. Her general and psychomotor development had been normal. Her weight was 101 cm (
Chondrodysplasia Punctata, Tibia-Metacarpal (MT) Type M. Rittler, H. Menger, and J. Spranger Department of Pediatrics, University of Mainz, Mainz, Federal Republic of Germany
We describe 7 patients with a new form of chondrodysplasia punctata. Its principal clinical manifestations are flat midface and nose, short limbs, and otherwise normal development. Consistent radiologic manifestations in the newborn infant are discrete calcific stippling, coronal clefts of vertebral bodies, short tibiae, and shortness of the 2nd and 3rd metacarpal bones. Radiologic findings in the older child include shortness of tibiae and the 3rd and 4th metacarpals.
KEY WORDS: short stature, calcific stippling, radiologic manifestations INTRODUCTION Stippled calcifications occur in a heterogeneous group of congenital diseases, such as prenatal infections, warfarin embryopathy [Shaul et al., 1975; Pauli, 19881,alcohol embryopathy [Paditz and Rupprecht, 19851,primary peroxisome defects [Wanders et al., 19881, chromosome anomalies [Hunter et al., 19851, and in various forms of chondrodysplasia punctata. In 1980 and 1982 Burck et al. described 2 patients with a form of chondrodysplasia punctata characterized by marked mesomelic involvement. On the basis of 7 personal observations and several cases from the literature [Haynes and Wangner, 1951; Asanti and Heikel, 1963; Rogers, 19891,we delineate the clinical and radiologic manifestations, natural course and variability of this apparent nosologic entity. CLINICAL REPORTS Patient 1 This boy was born a t term after a pregnancy complicated by polyhydramnios. His birthweight was 3,700 g. Clinical signs noted a t birth were flat face, atrophic skin changes, and a cleft palate. No cataracts were detected.
Received for publication July 10, 1989; revision received February 28, 1990. Address reprint requests to Dr. J. Spranger, Kinderklinik der Johannes Gutenberg Universitat, Langenbeckstr. 1,D-65 Mainz, FGR.
0 1990 Wiley-Liss, Inc.
He also had a flat nose, small mouth, micrognathia, and short neck and limbs (Fig. 1A).Chromosomes were normal. He died a t 3 months of bilateral pneumonia after frequent respiratory infections. Radiographs taken on the 5th day of life showed irregular ossification of the vertebral bodies and sternum, and bilaterally short tibiae, second, and third metacarpals (Fig. 4A).
Patient 2 This girl, the first child of healthy, nonconsanguineous parents, was noted a t birth to have dislocated hips and knees. At 11months her midface was flat, the nasal bridge depressed, mouth and chin were small, the ears cupped and anteverted. She had short lower limbs and single transverse palmar creases (Fig. 1C). Her length, weight, and head circumference (OFC) were all ~ 3 r centile. d Frequent episodes of wheezy bronchitis required repeated hospitalization. She was followed radiologically from birth to the age of one year (Figs. 2B, 6B). Patient 3 Patient 3, a girl, was born after 30 gestational weeks with a weight of 1,030 g. At birth she was noted to have a flat midface, a depressed nasal bridge, and short limbs. She was seen again at age 6 years. Her general and psychomotor development had been normal. Her weight was 101 cm (
