Cases of Congenital Muscular Rigidity, or Little's Disease

Congenital muscular torticollis. A spectrum of disease.

Sternocleidomastoid muscle fibrosis has been recognized for centuries, but its pathogenesis and treatment remains controversial. Pseudotumor of infancy is a firm fibrous mass in the sternocleidomastoid muscle appearing at 2 to 3 weeks of age. Congenital muscular torticollis is less common and appears later in life. Pseudotumor and congenital muscular torticollis probably represent different man...

Ullrich congenital muscular dystrophy: report of nine cases from India.

BACKGROUND Ullrich congenital muscular dystrophy (UCMD) is a unique congenital disorder characterized clinically by generalized muscle weakness, contractures of the proximal joints and hyperextensibility of the distal joints and begins from birth or early infancy. MATERIALS AND METHODS We prospectively evaluated nine cases of classical UCMD and recorded the clinical phenotypic characteristics...

Spinal muscular atrophy combined with congenital heart disease: a report of two cases.

Congenital Rickets: Report of Four Cases

Introduction: Vitamin D deficiency and rickets continue to be health problems in developing countries and most of the infants with congenital rickets may present with hypocalcemic seizure.   Case Report: In this article, the report on four infants who presented with hypocalcemic seizures but subsequently were found to have congenital rickets is presented. All of them had hypocalcaemia and low l...

Congenital Vomer Agenesis: Report of Two Cases

Introduction: Congenital vomer agenesis is an extremely rare condition in which the vomer bone does not fully develop, which can lead to septal perforation. Case Report: We report two cases with a defect in the vomer bone in the posteroinferior portion of the septum, found accidentally while performing a pre-operative CT scan for nasal obstruction evaluation. They were diagnosed with congenital...