Marshall-Smith Research Articles

Marshall–Smith syndrome: Natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities

The Marshall-Smith syndrome (MSS) is a distinct malformation syndrome characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and unusual facies, including prominent forehead, shallow orbits, blue sclerae, depressed nasal bridge, and micrognathia. At least 33 cases have been reported in the literature, mostly as single case reports or small series. The purpose of the present study is to report on the clinical findings and natural history of MSS in five children and to review the features of three others previously reported, with particular attention to the skeletal and connective tissue findings. Our study demonstrates an increased rate of nontraumatic fractures and other bony and connective tissue abnormalities that support the hypothesis that MSS should be considered an osteochondrodysplasia. In addition, long-term survival beyond infancy is possible if respiratory problems are expectantly and aggressively managed.

A Case with Marshall-Smith Syndrome without Life-threatening Complications

We present a case of Marshall-Smith syndrome, characterized by accelerated osseous maturation, craniofacial anomalies, failure to thrive, psychomotor delay, pulmonary dysfunction, and limited life expectancy. Recently, Marshall-Smith syndrome's clinical variability is becoming apparent and the phenotype is expanding. Our case had craniofacial anomalies, including prominent eyes, external strabismus, blue sclera, flat nasal bridge, and micrognatia. Moreover, she showed extension of the hip joint, hypotonia, and arachnodactyly. She was referred to our hospital due to dysmorphic facies at 7 mo and overgrowth was noticed with a height of 74.2 cm (+2.7 SD). Radiographic surveys demonstrated accelerated osseous maturation with a bone age of 1 yr 6 mo at the chronological age of 10 mo and broad proximal phalanges. We diagnosed this case as Marshall-Smith syndrome according to clinical features and radiographic findings. Except for one episode of broncho-pulmonitis which required hospitalization, she has not had other severe infections up to date. Presently, she is 1 yr 9 mo; 88.0 cm (+2.1 SD) and 10.4 kg (-0.3 SD). This case suggests that there are patients with Marshall-Smith syndrome without life-threatening complications.

Osseous fragility in Marshall-Smith syndrome.

Marshall-Smith syndrome is characterized by accelerated osseous maturation, craniofacial anomalies, failure to thrive, psychomotor delay, hypotonia, pulmonary dysfunction, and limited life expectancy. We describe a 7-year-old girl who, in addition to meeting these criteria for Marshall-Smith syndrome, had multiple fractures and skeletal anomalies. The purpose of this report is to draw attention to Marshall-Smith syndrome as one of the skeletal dysplasias characterized by osseous fragility.

Marshall-Smith Syndrome: Case Report

Marshall-Smith syndrome is a rare disease, with about 29 cases reported to date. It is characterized by accelerated bony growth and maturation, phalangeal abnormalities (wide middle and narrow distal phalanges), unusual facial features (prominent eyes, bluish sclerae, coarse eyebrows, an upturned nose, hypoplastic facial bones, and shallow orbits), failure to thrive, respiratory difficulties, and psychomotor retardation. This report of the radiologic findings of Marshall-Smith syndrome is, as for as we know, the first to be published in Korea.

Marshall-Smith syndrome

Marshall-Smith syndrome is a rare congenital condition, characterized by advanced bone age, facial anomalies and relative failure to thrive. We report a newborn male with Marshall-Smith syndrome and summarize 21 previously reported cases. We report cerebellar hypoplasia in our patient, which has not been previously reported in subjects with this rare syndrome. This patient's findings broaden the phenotypic spectrum seen in Marshall-Smith syndrome.

Marshall-Smith syndrome: the expanding phenotype.

We report a child of 3 years 9 months with the Marshall-Smith syndrome (MSS), characterised by the typical facial features, developmental delay, and advanced bone age. After the diagnosis was...

Marshall-Smith syndrome: new radiographic, clinical, and pathologic observations.

Radiographic, clinical, and histologic findings in two infants and a neonate with a syndrome of profoundly accelerated skeletal maturation included features closely resembling those of Marshall-Smith (MS) syndrome, but patients had dysmorphic ears as well as distinctive generalized skeletal abnormalities suggestive of a bone dysplasia. Among these was an instability at the craniocervical junction with severe spinal stenosis. These previously unrecognized abnormalities may represent uncommon manifestations within the spectrum of MS syndrome or indicate the existence of a separate disorder.

Cervicomedullary junction decompression in a case of Marshall-Smith syndrome

The case is reported of a 2-year-old boy born with Marshall-Smith syndrome who had difficulty in swallowing and who exhibited spasticity and quadriparesis due to compression of the medulla and cervical spine. This is the first child with this rare condition reported to have brain-stem compression from bone abnormalities at the craniovertebral junction and who has required surgery.

The Marshall-smith syndrome

The Marshall-Smith syndrome is characterized by accelerated skeletal maturation, failure to thrive and dysmorphic features. This report describes the 17th published case of this rare disorder.

467 MARSHALL-SMITH SYNDROME: ANDROGEN ABNORMALITIES

In 1971 Marshall et al described a syndrome consisting of markedly accelerated skeletal maturation, relative failure to thrive and dysmorphism. Since then 11 cases have been reported. With the exception of an elevated testosterone in a neonatal female, hormonal evaluations have been normal. We present a male with Marshall-Smith Syndrome with abnormal adrenal androgen production. A.S. was noted at birth to have a bone age of 2 yrs. At age 8 mos. the bone age was 6 yrs. Noted were generalized hirsutism, prominent forehead, low set ears, shallow orbits with prominent eyes, small triangular upturned nose, hypoplasia of facial bones, long, tapered fingers, inguinal testes, small scrotum and a penile length of 5¼ cm. The following were normal for age: T4, FSH, LH, somatomedin-C, testosterone, testicular response to HCG, and androgen receptors in cultured skin fibroblasts. Seventeen hydroxyprogesterone (17-OHP) was elevated (840 ng/dl; nl 30-100) as was androstenedione (67 ng/dl; nl<50). An ACTH stimulation test was done. A 30 min. increase in 17-OHP of 23.4 ng/dl/min. suggested an adrenal enzymatic defect and hydrocortisone 20 mg/m2/day was begun. The androstenedione decreased to 13/ng/dl and on therapy has remained normal. ACTH stimulation tests were performed on both parents. The 30 min. increase in 17-OHP was elevated in both (father-13.8 ng/dl/min; mother-8.9 ng/dl/min; nl<6.5 ng/dl/min) suggesting a heterozygous state for congenital adrenal hyperplasia. It is speculated that an inherited abnormality in androgen production may be contributory to the osseous maturation seen in the Marshall-Smith Syndrome.

Marshall-Smith Syndrome: Two Case Reports and a Review of Pulmonary Manifestations

Two patients with the Marshall-Smith syndrome are described. Both had significant and fatal respiratory distress attributable to this condition. Congenital, functional, and acquired abnormalities of the respiratory tract are described in nine of the 11 case reports in the literature and are characteristic of this syndrome as well as a primary cause of failure to thrive and death in these patients. Unusual immunologic findings in one of our two patients are the first to be reported in the Marshall-Smith syndrome. Quantitation of immune function in other patients with this condition will be helpful in determining the significance of these results. It is hoped that the etiology of the syndrome will be discovered as more cases are recognized and reported by pediatricians caring for infants with failure to thrive, advanced bone age, and chronic respiratory symptomatology.

Testicular biopsy prior to termination of leukemic therapy

recurrent pulmonary infections. The facial features included coarse eyebrows, upturned nose, and micrognathia. At first, we assumed that the child had the MarshallSmith syndrome, but the patient had no phalangeal abnormalities at 19 months. In addition to these features, the patient had mild camptodactyly, limited motion of the knees, and wide distal ends of the long bones. The facial features also included a large bifrontal diameter, fiat occiput, ocular hypertelorism, and a small fish-like mouth, features found in the Weaver-Smith syndrome. Furthermore, the patient had behavioral characteristics similar to those of patients reported by Weaver and his associates, z The child was shy toward strangers, and tilted her head downward in viewing her environment. The serum amino acid studies showed a moderate decrease in the levels of glycine, alanine, and lysine. She did not have excessive postnatal growth. Since this patient has features thought to discriminate between the Marshall-Smith syndrome and the Weaver-Smith syndrome, we assume that these syndrome are morphologic variants of a single entity.

Marshall-Smith syndrome with large bifrontal diameter, broad distal femora, camptodactly, and without broad middle phalanges

Marshall-Smith syndrome with large bifrontal diameter, broad distal femora, camptodactly, and without broad middle phalanges