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Treatment of patients with Hutchinson-Gilford progeria syndrome (HGPS) is based on the abnormalities of accelerated aging that affect the healing processes, combined with a fragile cardiovascular status. A classic HGPS case, of Korean ancestry, previously treated for severe coxa valga with bilateral varus osteotomies using blade plate fixation is presented. Complications over the blade plate area required removal of the hardware, after which the patient showed right-sided hypertonicity--determined to be a cerebrovascular accident. Subsequently, the patient returned almost completely to her presurgical neurologic status. Perioperative planning for HGPS patients should include risks that are typically considered in the planning for geriatric patient care.

Two patients with Marinesco-Sjogren syndrome had striking orthopaedic abnormalities that seemed to arise from multiple areas of physeal growth arrest. Major involvement was seen in the distal femora, where bilateral hypoplasia of the lateral condyles resulted in progressive valgus, patellar dislocation, and quadriceps dysfunction. Marinesco-Sjogren syndrome seems to arise from an error in lysosomal handling of lipids. Timely orthopaedic intervention may be helpful in prolonging ambulation in these patients.

In spite of the many recent reports on the damaging effects of LSD on human chromosome in vitro1,2 and in vivo3-6 and its ability to produce congenital malformations in rodents7, the teratogenic potential of this drug in humans is still uncertain. Two infants with limb malformations who had been exposed to LSD in utero have thus far been reported8,9. On the other hand, Cohen, et al.5, reported nine children and Hulten, et al.6, one child, all of whom had been exposed to LSD in utero and had no obvious birth defects although chromosome damage was apparent. Hecht and his co-workers9 have pointed out the need for additional data on infants who had in utero exposure to LSD, regardless of the presence or absence of congenital malformations, so that the teratogenic properties of the drug could be evaluated.

The majority of chondrodystrophies are associated with distinct abnormalities in chondro-osseous histopathology. In some disorders, the pathological abnormalities are characteristic and can be used as diagnostic criteria, in other instances the morphological abnormalities are not specific, and in still others, no abnormality in chondro-osseous morphology is present. In this paper, the chondro-osseous histopathology and ultrastructure of a number of chondrodystrophies are reviewed to illustrate the different pathogenetic mechanisms involved in each of these disorders.

Mesomelic shortening of the extremities lends itself as a useful clinical and/or radiologic sign to characterize a group of hereditary bone dysplasias. Table 1 and Figure 4 are presented to facilitate the comparison between the many different types of mesomelic dwarfism. Differential diagnosis between these types is not difficult because of the specific bone changes and extraskeletal malformations present. As in many hereditary syndromes, however, there may be wide clinical variability within a single entity, and meticulous clinical and radiologic examination must be done to arrive at the correct diagnosis. Certain other forms of chondrodystrophies, such as achondroplasia, hypochondroplasia, pseudoachondroplasia and distrophic dwarfism, can be easily differentiated from the mesomelic dysplasias by their clinical features and skeletal radiographs. Nothing is known about the pathogenesis of the various forms of mesomelic dysplasias. There is no available specific treatment, although corrective surgery has benefited selected patients. The correct diagnosis is, however, important both for prognostication and accurate genetic counseling.

Metatropic dwarfism, the Kniest syndrome, and pseudoachondroplastic dysplasia are specific chondrodystrophic disorders that have in common dysplasia of the metaphyses, epiphyses, and vertebrae. Metatropic dwarfism and the Kniest syndrome have been confused with Morquio's disease and with each other in the past, but can be easily distinguished on the basis of radiographic features, clinical features, and cartilage pathology. The pseudoachondroplastic dysplasias are associated with short limbed dwarfism and have been confused with achondroplastic dwarfism, but can be readily distinguished on the basis of the normal head, delayed age of onset, the typical radiographic features and the cartilage pathology.

A retrospective study was done to determine the entire clinical spectrum of lumbar spine disease in 47 adult patients, averaging 27.6 years of age, with achondroplasia. Five distinct clinical categories were defined. Twenty-eight percent of the patients were asymptomatic; 28% had only mechanical or degenerative lumbar pain; 6% had symptoms of a disc herniation; 21% had spinal claudication; and 17% had spinal claudication and objective neurologic deficits. Over 50% of the achondroplastic patients in this series had minor or no lumbar-spine-related symptoms through the third decade. The number of symptomatic patients did not increase in the older age groups. Ninety-one percent of symptomatic patients were 30 years of age or younger at the onset of symptoms. The presence of a thoracolumbar kyphosis, regardless of its magnitude, an L1 interpediculate distance less than 20 mm, and L5 interpediculate distance less than 16 mm, and a large structural lumbar lordosis were found more frequently in patients with disabling symptoms.

An isolated deficiency of human growth hormone has been documented in 7 females who have had normal pregnancies and have lactated normally in the post-partum period. One such female was studied during the last trimester and early post-partum period of a normal pregnancy. Plasma HGH was undetectable in this patient's plasma during the period of post-partum lactation when measured following insulin-induced hypoglycemia, arginine infusion and suckling. Since HGH was not detectable during active lactation, both in the basal state and following provocative stimuli, the human growth hormone molecule, or at least those parts of it which are immunologically active and involved in growth promotion, must not be necessary for post-partum lactation.