Cystic adrenal pheochromocytoma, a very exceptional form: case report.

A pheochromocytoma is a tumor that typically originates within the chromaffin cells of the adrenal glands, resulting in excessive production of catecholamines. Cystic forms are exceptional and pose a diagnostic challenge, especially those that are non-secreting. The most prevalent symptom associated with this condition is arterial hypertension, which can be either persistent or, more commonly, intermittent.

Patterns of Diabetes Care Among People with Type 1 Diabetes During Ramadan: An International Prospective Study (DAR-MENA T1DM).

Introduction: To describe the characteristics and care of participants with type 1 diabetes during Ramadan in the Middle East and North Africa.

Methods: The DAR-MENA (Diabetes and Ramadan-Middle East and North Africa) study was a prospective, observational study of adults with type 1 and type 2 diabetes who were Muslim and did/did not intend to fast during Ramadan 2016. Baseline data were collected 6 weeks prior to Ramadan, with a follow-up visit 1-2 months after Ramadan.

Persistent torticollis, facial asymmetry, grooved tongue, and dolicho-odontoid process in connection with atlas malformation complex in three family subjects.

Congenital clefts and other malformations of the atlas are incidental findings identified while investigating the cervical spine following trauma. A persistent bifid anterior and posterior arch of the atlas beyond the age of 3-4 years is observed in skeletal dysplasias, Goldenhar syndrome, Conradi syndrome, and Down's syndrome. There is a high incidence of both anterior and posterior spina bifida of the atlas in patients with metabolic disorders, such as Morquio's syndrome [Baraitser and Winter in London dysmorphology database, Oxford University Press, 2005; Torriani, Lourenco in Rev Hosp Clin Fac Med Sao Paulo 53: 73-76, 2002].

Atlanto-axial rotatory fixation in a girl with Spondylocarpotarsal synostosis syndrome.

We report a 15-year-old girl who presented with spinal malsegmentation, associated with other skeletal anomalies. The spinal malsegmentation was subsequently discovered to be part of the spondylocarpotarsal synostosis syndrome. In addition, a distinctive craniocervical malformation was identified, which included atlanto-axial rotatory fixation.

Craniovertebral malformation complex in a child with Weismann-Netter-Stuhl syndrome.

Objective: Bowing of the legs is usually thrown into the basket of vitamin D deficiency rickets; therefore, a significant number of affected children can be misdiagnosed and improperly managed. This case illustrates how the careful clinical and radiological assessment of such a case can lead to the adequate understanding of its etiology.

Description: We report a sporadic case of a 2-year-old male child who presented with radiological features that were compatible with Weismann-Netter-Stuhl syndrome.

Progressive congenital torticollis in VATER association syndrome.

Study Design: A family study to reach the diagnosis of a multiple malformation syndrome.

Objective: To determine the cause of torticollis, in a patient with the VATER association.

Summary Of Background Data: The VATER association is a combination of vertebral anomalies, anal stenosis, tracheo-esophageal fistula, and radial anomalies.

A novel form of ischio-vertebral syndrome.

We report a boy with ischial hypoplasia, vertebral malsegmentation and multiple other skeletal anomalies which do not fit well with any previously-described disorder. The proband's brother and mother were also slightly affected. We review the pertinent literature, discuss the differential diagnosis and suggest that this may be a previously unreported autosomal dominant disorder, with variable penetrance.

Subtotal amelia in a child with autosomal recessive hypohidrotic ectodermal dysplasia.

We report an inbred Tunisian family, in which the proband manifested signs of hypohidrotic ectodermal dysplasia, subtotal amelia, scoliosis and left renal agenesis. Two other family members had the full clinical criteria of hypohidrotic ectodermal dysplasia, characterized by deficient sweat glands, hypodontia, hypoplasia of the mucous glands, and fine hair. Nine family subjects had variable clinical expression of the disorder.

Familial vertebral segmentation defects, Sprengel anomaly, and omovertebral bone with variable expressivity.

A 10-year-old boy was found to have an unusual presentation of the Sprengel anomaly, omovertebral bones, and segmentation defects of the vertebral column at the cervical, thoracic, and sacral level. In addition, he showed hypertelorism, downslanting palpebral fissures, ptosis, webbing, and hypoplasia of the thenar and hypothenar areas. He had moderate mental delay.