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Ralph S Lachman

Publications and source records attributed to Ralph S Lachman.

23 records · Page 2Linked to original sources
PubMed2002

Spectrum of dolichospondylic dysplasia: two new patients with distinctive findings.

Dolichospondylic dysplasia (DD) is a rare skeletal dysplasia primarily characterized by tall vertebral bodies and disproportionate short stature. Radiographic manifestations include tall vertebral bodies and gracile bones of the hands. Patients usually have eye and ear findings in addition to borderline mental retardation; however, tall vertebral bodies and slender tubular bones are also seen in the 3-M syndrome. Patients with the 3-M syndrome have a characteristic face with a triangular shape, frontal bossing, a flattened malar region, full eyebrows, a short nose with a bulbous tip, upturned nares, and full lips. We present two unrelated patients who share a distinct phenotype and have tall vertebral bodies, overtubulation of long bones, and short tubular bones of the hands and feet. We discuss the overlapping and distinguishing features between DD and the 3-M syndrome. Patient 1 was a 13-year-old female, and patient 2 was an unrelated adult female. These patients had normocephaly and short stature. They shared a common phenotype consisting of mild malar hypoplasia, a narrowed nasal body with a fleshy tip, full lips, and normal intelligence. In addition, they showed mild hand and foot abnormalities. These two patients lack many of the typical clinical features of both DD and the 3-M syndrome. They share a common phenotype and likely represent a distinct disorder. The spectrum of disorders with tall vertebral bodies as a key feature may include different entities that may be further defined with the characterization of the molecular defect(s).

Abnormalities, Multiple↗
PubMed2002

Skeletal measurements among infants who die during the perinatal period: new population-based reference.

BACKGROUND: Reference data for roentgen skeletal measurements among infants who die during the perinatal period is not available, although it might prove helpful in the study of pre-autopsy radiographs. OBJECTIVE: Our aim was to define new population-based reference data for skeletal measurements among infants who die during the perinatal period. MATERIALS AND METHODS: We routinely took standardised pre-autopsy radiographs of aborted and stillborn fetuses from 16 weeks gestational age to 7 days after delivery during a period of 11 years in our hospital. The data presented here represents nearly all perinatal deaths in a well-defined geographical area during the study period. We calculated detailed plots of estimated 10th-90th centiles and quartiles of different skeletal measurements by gestational age at death. RESULTS: High correlations were seen between birth weight and the different skeletal measurements, including cranial width ( r>0.9, P<0.001). We were not able to identify any asymmetrical pattern of skeletal growth. Reference plots for femoral, tibial, humeral, radial and lumbar spine lengths, and for pelvic width are presented. CONCLUSIONS: We suggest that the current population-based reference data might be beneficial, and that skeletal radiographic measurements might contribute substantially in the assessment of fetal growth stage and in detection of skeletal abnormalities in infants who die during the perinatal period.

Autopsy↗
PubMed2002

Cerebro-osseous-digital syndrome: four new cases of a lethal skeletal dysplasia--distinct from Neu-Laxova Syndrome.

Neu-Laxova Syndrome (NLS) is a severe disorder with intrauterine growth retardation, edema, and characteristic face (including microcephaly with receding forehead, protuberant eyes, a flattened nose, deformed ears, cleft palate, and micrognathia). Ichthyosis is often present. Limb anomalies include hypoplastic fingers and syndactyly of fingers and toes. Patients are usually stillborn or die shortly after birth. We report five unrelated patients--four with atypical NLS and one with typical NLS. All five patients were stillbirths. Clinically, the atypical NLS patients showed a large skull; rhizo-, meso-, and acromelia; and hypoplasia of the metacarpals and phalanges. The feet were similarly affected. Radiographically, the atypical patients showed interpediculate narrowing and hypoplastic vertebral bodies. The long bones were stick-like, showing diaphyseal widening that spared the metaphyses and was more pronounced in the lower extremities. The ilia had a half-moon configuration with widening of the sacrosciatic notches. The ischia were vertical and the pubic bone was absent. The typical NLS patient showed microcephaly, normal vertebral body, and long bone ossification, but a pelvic configuration similar to that of the atypical NLS patients. The common and distinguishing clinical and radiographic features are reviewed. Scott et al. [1981: Am J Med Genet 9:165-175] described two patients with NLS with radiographic and clinical findings similar to patients 1-4 reported here. Patients 1-4 of this report lack the typical findings of NLS and likely represent a distinct lethal skeletal dysplasia.

Abnormalities, Multiple↗
PubMed2002

Ossification sequence in infants who die during the perinatal period: population-based references.

PURPOSE: To determine population-based references for the relationships between the presence of ossification centers and gestational age and skeletal length measurements among infants who die during the perinatal period, as well as to evaluate the possible influence of intrauterine growth restriction on ossification stage. MATERIALS AND METHODS: During an 11-year period, nearly all infants who died perinatally in a well-defined geographic area routinely underwent radiography with a standardized technique. The presence of visible secondary ossification centers in the singletons (n = 495) was evaluated. Cluster analysis was used to identify stages of ossification; a sequential appearance of secondary ossification centers was assumed. Comparisons were made with Wilks lambda between male and female infants and between infants who were presumed to have growth restriction and those who were not. Reference ranges for the presence of ossification centers were calculated for interquartile ranges of femur length and gestational age. RESULTS: Eight clusters of ossification defining different stages of ossification of the pelvis, hindfeet, and knees were identified. The sequential clusters outlined well-defined intervals of femur length and gestational age. Bone lengths, birth weight, and gestational age within ossification clusters did not differ between the sexes (Wilks lambda = 0.989, P =.532) or according to whether growth restriction was presumed to exist (Wilks lambda = 0.958, P =.481). CONCLUSION: The reference diagrams calculated with this method indicate relationships between ossification sequence and both gestational age and skeletal length measurements.

Birth Weight↗