We report four children with sternomastoid contracture combined with torticolis secondary to congenital vertebral anomalies. Two had features of Klippel-Feil syndrome and a proximal release of the contracted sternomastoid produced good cosmetic correction initially. Progression of the deformity occurred subsequently without recurrence of sternomastoid contracture. One child had such mild deform...

BACKGROUND Robinow syndrome or "foetal face" syndrome is an extremely rare genetic disorder with characteristic skeletal and orofacial findings. The purpose of the present case report is to describe the clinical findings of an 8 year-old female patient with autosomal recessive Robinow syndrome. CASE REPORT The patient was born to consanguineous parents and had anomalies typical of the recessi...

BACKGROUND The aromatase inhibitor letrozole has recently been identified as a promising ovulation-inducing agent. As information regarding possible adverse effects on gestation outcome is limited, the present study was undertaken to evaluate the developmental toxicity potential of letrozole in the rat. METHODS Pregnant Sprague-Dawley rats were exposed via drinking water to letrozole at 0 (co...

Goldenhar Syndrome or oculoauriculovertebral spectrum is a complex syndrome characterized by an association of maxillomandibular hypoplasia, deformity of the ear, ocular dermoid and vertebral anomalies and the most severe form of hemifacial microsomia. Here, we describe a 26-year-old male patient with unilateral hemifacial microsomia, preauricular ear tags, macrosomia on the right side of the f...

Short stature resulting from spinal deformity in three generations of a family is reported. Multiple vertebral anomalies were found in the proband and are the probable underlying cause of the severe scoliosis seen in the adult members. The pattern of inheritance suggests that an autosomal dominant gene is responsible for this condition, but it may well be the same gene that causes the dominant ...

The effect on pulmonary function of serial VEPTR expansion thoracoplasty was studied longitudinally in anesthetized children with spondylothoracic dysplasia using a special mobile unit. The median age of 24 children at the start of surgery was 4.6 years (1.8-10.8) and most exhibited a moderate-to-severe restrictive lung defect. After a median of 3.2 years (1.0-6.5), their forced vital capacity ...

Goldenhar's syndrome (Goldenhar, I952) consists of epibulbar dermoids or lipodermoids, auricular appendages, pretragal blind fistulas, and vertebral anomalies. A number of other deformities associated with this condition have been summarized by Bowen, Collum, and Rees (I97I). Our case is presented because of the presence of an aberrant salivary gland in the nose. This complication has not been ...

Radiological records of 104 patients with multiple vertebral anomalies without apparent spina bifida and 112 infants with spina bifida cystica were surveyed and the incidences of hemivertebrae and of rib, vertebral body, and vertebral arch fusions were recorded. The distributions of these four anomalies along the vertebral axis were found not to be statistically different between the two age gr...

collected here were written in Italian by amanuenses and seem to have been intended for publication. A further 26 consultation letters are also included but these were seemingly confidential and not for publication. Most, but not all, of the cases begin with a letter of petition, a request for advice from a physician who describes the case. Torti, of course, had not seen most of the sufferers. ...

A 7.5-yr-old female southern white rhinoceros (Ceratotherium simum simum) aborted spontaneously at approximately 13 mo gestation. The fetus exhibited malformations consistent with schistosomus reflexus syndrome, including spinal inversion and ventral midline abdominal defect with externalization of abdominal viscera. A computed tomography was performed and revealed severe scoliosis, a spiral ro...