C. Benjamin Graham

A new overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly**

Two strikingly similar unrelated male children have the following pattern of anomalies: accelerated growth and osseous maturation, unusual craniofacial appearance, hoarse and low-pitched cry, and hypertonia with camptodactyly. The craniofacial abnormalities include large ears, broad forehead with hypertelorism, and long philtrum in relation to the relatively small mouth and mandible. The excessive growth is of prenatal onset and has continued at two to three times the normal rate with dysharmonic acceleration of skeletal maturation.

Larsen's syndrome: A skeletal dysplasia with multiple joint dislocations and unusual facies

An infant is described who has multiple joint dislocations, unusual facies, andboney abnormalities, which constitute a syndrome first reported by Larsen. This report expands Larsens syndrome with the following additional findings: apparent diminished rigidity of cartilage in early infancy, extra finger creases, short fingernails, and an unusual juxtacalcaneal “accessory” bone. Both infant and mother have a flattened nasal bridge. Recognition of this syndrome is important because of the implications for counseling. Affected individuals can be expected to have normal central nervous system development, but the joint abnormalities require prolonged orthopedic treatment; achievement of completely normal function is unlikely.

Testosterone treatment for micropenis during early childhood

Low-dosage, short-term, systemic testosterone therapy resulted in enlargement of micropenis to normal penile size for age in 4, XY boys under 3 years of age. Each patient was given 25 mg. of intramuscular Depo-Testosterone every three weeks for three months. Acceleration of linear growth and osseous maturation was transient, returning toward a normal rate after the therapy. Parental acceptance of the results was favorable, and virilizing side effects other than enlargement of the penis were minimal. The decision to utilize this mode of treatment should obviously be approached with caution.

Syndrome of accelerated skeletal maturation and relative failure to thrive: A newly recognized clinical growth disorder

Two unrelated male infants are described with a syndrome characterized by unusual facial features, relative failure to thrive, and the most marked early acceleration of osseous maturation of any condition described to date. The facial abnormalities include coarse eyebrows, shallow orbits, and an underdeveloped upturned nose. An additional feature of this syndrome is significant motor and mental retardation.

Pneumopericardium and pneumomediastinum in infants and children

Abstract The increasing use of continuous positive airway pressure (CPAP), and positive end-expiratory pressure (PEEP) in the treatment of pulmonary insufficiency is associated with an increased frequency of pneumothorax, pneumomediastinum, and pneumopericardium in children. While the clinical implications and treatment of pneumothorax are well documented, the treatment of pneumomediastinum and pneumopericardium in the presence of continuing elevated airway pressures is not. In the presence of continuing positive-pressure ventilation in the newborn compression of the heart and great veins, sudden bradycardia, and loss of blood pressure lead to a fatal outcome unless the pericardium is decompressed. In older patients, routine palpation for subcutaneous emphysema aids in early diagnosis. When positive-pressure ventilation is needed to sustain life, early measures to decompress the trapped air are necessary.

Neonatal necrotizing enterocolitis. A report of twenty-one cases with fourteen survivors.

Abstract Prompt medical and particularly surgical therapy has caused a marked improvement in the survival of infants with necrotizing enterocolitis. In this series, the second largest reported to date, the survival is 67 per cent.

A new growth deficiency syndrome

A new syndrome characterized by growth and mental deficiency, unusual facies, hearing loss, generalized muscular hypertrophy, joint limitations and skeletal deformities is described. Older paternal age has been documented in these two cases.

Aggressive treatment of neonatal necrotizing enterocolitis: 38 patients with 25 survivors

Abstract Neonatal necrotizing enterocolitis was first described by Genersich 1 in 1891. Although there have been several descriptive reports of this entity in the European literature, until recently there were fewer than 80 cases reported in the English literature, with about 15 survivors. With the exception of two papers from Columbia Presbyterian Hospital, New York City, in 1965 and 1967, reporting 25 cases with six survivors; 2,3 the University Hospital in Seattle, in August 1969, reporting 21 cases and 14 survivors; 4 and the Los Angeles Childrens Hospitals report, in November 1969, of 16 cases with four survivors, 5 most of these earlier papers appeared as individual case reports. In newborn nurseries and premature centers where the pediatricians are alerted to this condition the incidence is about 2 per cent of the admissions. Unfortunately, in most instances, it still is a condition that goes unrecognized by pediatricians, surgeons, and pathologists alike. Unless recognized and treated, necrotizing enterocolitis is a highly lethal disease in most cases. Although the etiology of this condition is not known, the pathogenesis is probably due to decreased mesenteric blood flow during periods of hypotension or stress in the perinatal period. The mesenteric ischemia may be secondary to a redistribution of blood flow to more vital organs. Since mesenteric arterioles terminate as preferential channels, most of the mucosal blood flow may be shunted away from capillary beds as mesenteric arteriolar resistance increases and mesenteric arteriolar pressure falls below critical closing pressure. Hypoxia results in secondary muscle spasm further reducing effective blood supply to the mucosa with resulting necrosis. 2–6

Prenatal diagnosis of thrombocytopenia with absent radii

Six pregnancies at risk for thrombocytopenia and absent radii (TAR) have been studied between 16 and 20 menstrual weeks utilizing fetal radiography. Two affected and four unaffected fetuses have been correctly identified. Fetal radiography can provide reliable prenatal diagnosis in pregnancies at risk for TAR.

Hereditary dysplasia of bone with kyphoscoliosis,contractures, and abnormally shaped ears*

A father and son have been observed with an unusual complement of musculoskeletalanomalies, including severe kyphoscoliosis, generalized osteopenia without evidence of fractures, slender long bones, arachnodactyly, congenital contractures, under-developed musculature, and abnormally formed ears. Although similar in many respects to Marfans syndrome and osteogenesis imperfecta, the present condition, which is apparently inherited in an autosomal dominant manner, seems to represent a distinct genetic entity.