John P. Dorst

Respiratory complications of achondroplasia

Nine patients with achondroplasia who were seen over a three-year period developed significant respiratory complications. Eight had sleep-disordered breathing, including obstructive sleep apnea in five, for which two required tracheostomy. Of the seven patients with significant hypoxemia, five had clinical evidence of cor pulmonale and recurrent pulmonary infiltrates. Two patients died, one with autopsy findings of compression of the medulla at the level of the foramen magnum and one with respiratory and cardiac failure. Appropriate therapy for our patients depended on recognition of the mechanisms that led to the respiratory complications, including (1) chest deformity, (2) upper airway obstruction and sleep-disordered breathing, (3) neurologic complications, and (4) coincidental chronic pulmonary conditions such as asthma.

Heterogeneity in the campomelic syndromes. Long-and short-bone varieties.

Analysis of 9 cases of bilateral bent limbs (campomelia) and dwarfism, as well as a review of the literature, indicate that campomelic syndrome appears to be a well-defined distinct disorder which the authors call long-limbed campomelic syndrome. Other neonates with congenital bent-limbed dwarfism can be classified as having short-limbed campomelic syndrome, and among these at least two distinct forms have been delineated--the craniosynostotic and the normocephalic form. Congenital bent bones also occur in a variety of generalized disorders of ossification that must be distinguished from these well-defined types of campomelic dwarfism.

Observations Suggesting Allelism of the Achondroplasia and Hypochondroplasia Genes

It is argued that there are at least two alleles at the achondroplasia locus: one responsible for classic achondroplasia and one responsible for hypochondroplasia. Homozygosity for the achondroplasia gene produces a lethal skeletal dysplasia; homozygosity for hypochondroplasia has not been described. We report here a child considered to be a genetic compound for the achondroplasia and hypochondroplasia alleles.

Use and complications of high-dose disodium etidronate therapy in fibrodysplasia ossificans progressiva

A boy with fibrodysplasia ossificans progressiva received nearly twice the usual therapeutic dose of disodium etidronate for 13 months in an attempt to prevent reossification following a second operation to correct severe torticollis. The operation was successful, but during therapy he developed weakness and distinctive bone lesions characterized by general osteopenia, widened physes, and unique radiolucent bands in the metaphyses. The osseous abnormalities were distinct from those of rickets and healed after withdrawal of the drug.

Oxandrolone therapy in patients with Turnersyndrome

Long-term, low-dosage androgen treatment of patients with Turner syndrome results in more rapid growth and significantly greater adult height than in control patients who receive only estrogen for pubertal development. Seventeen patients treated with oxandrolone for one year and ten treated for two years had significantly greater growth velocities during than before treatment. Mean adult height of 25 patients treated with oxandrolone, fluoxymesterone, or both was significantly taller than the height of adult patients with Turner syndrome treated with estrogen only. Excessive skeletal maturation was not generally observed.

A Useful Sign in the Recognition of Azygos Continuation of the Inferior Vena Cava

The absence of the inferior vena cava shadow on an adequate lateral chest film is an important clue to the diagnosis of azygos continuation of the inferior vena cava, especially in cyanotic patients with abnormalities of the abdominal situs. Recognition of this sign is important, since it indicates that an arm vein should be used for cardiac catheterization.

N-type anorectal malformations.

Three cases of N-type anorectal malformations have been encountered. Two girls with anorectal-vestibular fistulas (one with a normal anus and the other with mild stenosis) were typical of 15 other such cases in the literature. A boy with an anorectal-urethral fistula and covered anus had a lesser variant than most of the other 8 males in the literature. The frequently accompanying esophageal, renal, and skeletal anomalies were not present, nor did he have anterior urethral hypoplasia. The constellation of other major associated anomalies in the boys, but not in the girls, follows the pattern of other types of anorectal malformations and suggests an earlier and/or more severe teratogenic insult in the boys. Anterior perineal resection of the fistula is appropriate for girls with N-type fistulas and for those boys with normal anterior urethras. An additional urethroplasty is necessary for boys with anterior urethral hypoplasia. Our experience and that from the literature suggest that N-type anorectal malformations constitute a rare but real entity, akin to N-type tracheoesophageal fistulas. A plea is made that they be included in classifications of anorectal anomalies.

Roentgen Findings in Mucolipidosis III (Pseudo- Hurler Polydystrophy)

The skeletal changes seen in 6 patients with mucolipidosis III (pseudo-Hurler polydystrophy) are described: these include claw hands, flattening of the femoral epiphyses, platyspondyly, and flaring of the iliac wings. These changes are variable and not sufficiently characteristic to permit differentiation from certain mucopolysaccharidoses and other mucolipidoses on radiological grounds alone. Correlation with the clinical findings (particularly the onset and progression of symptoms, the degree of physical and mental retardation, and the normal excretion of acid mucopolysaccharides in the urine) is necessary for a specific diagnosis.

The scoliosis of congenital heart disease

Abstract Scoliosis occurs with greater frequency in patients with congenital heart disease (CHD) than in the normal population. In a random survey of 121 adolescent and adult patients with CHD, 44 per cent had scoliosis; in 19 per cent of these patients, the scoliosis exceeded 10°. Patients with cyanotic forms of CHD were more commonly affected than acyanotic patients. The severity of the scoliosis was also greater in the cyanotic group, particularly in the male patients. While the time of clinical detection and period of rapid progression are in adolescence, the onset of the curvature radiographically begins at an earlier age. Curves beginning before six years of age are the ones likely to progress to significant scoliosis. It is urged that careful attention be directed to analysis of serial chest radiographs in patients with CHD so that scoliosis can be detected and quantified and treatment can be begun when the curves show evidence of rapid progression.

Sudden death in congenital aortic stenosis: A review of eight cases with an evaluation of premonitory clinical features

Abstract Sudden death in patients with congenital aortic stenosis is a rare but dramatic event. Only 8 sudden deaths occurred in a 20 year period in our clinic, an incidence of 1 per cent (from 1961 to 1967). It is even less common for sudden death to occur in the absence of one or more warning symptoms or signs. Therefore, death in congenital aortic stenosis may be sudden, but it should not be unexpected. In severe cases of congenital aortic stenosis the electrocardiogram usually exhibits S-T-segment and T-wave changes of left ventricular systolic overload. Although severe cases infrequently may have a normal electrocardiogram, it is extremely unlikely that such a patient would not have some other indication for cardiac catheterization. Our criteria for cardiac catheterization are the presence or appearance of: symptoms referable to the cardiovascular system, narrowed peripheral arterial pulses, or LVSO on electrocardiogram. Even mild cases of congenital aortic stenosis may progress and all patients require careful, extended follow-up with sequential physical examinations and electrocardiograms. Repeat cardiac catheterization must be performed whenever changes in symptoms or signs warrant it.