The unlimited availability of biosynthetic human growth hormone (rhGH) has contributed to the disassociation of the treatment of short stature from its causes. The rationale for treatment has traditionally rested upon the assumption that short stature, in the extreme, may constitute a physical disability, and otherwise represents a significant psychosocial burden for the individual. This review...

Concerns about a child's growth are one of the most common topics parents voice during general pediatric office visits and are a leading cause for referral to a pediatric endocrinologist. There are a variety of conditions that lead to short stature in children; however, in the absence of true pathology, idiopathic short stature and constitutional delay are the most frequent causes. This article...

Osteogenesis imperfecta is a collagen related disorder characterized by increased bone fragility and low bone mass. The important oral finding in osteogenesis imperfect is the presence of dentinogenesis imperfecta. This article presents a case of osteogenesis imperfecta (type IV B) with dentinogenesis imperfecta where a 7-year-old girl had opalacent primary teeth associated with severe bone def...

Distal renal tubular acidosis is a syndrome of abnormal urine acidification and is characterized by hyperchloremic metabolic acidosis, hypokalemia, hypercalciurea, nephrocalcinosis and nephrolithiasis. Despite the presence of persistent hypokalemia, acute muscular paralysis is rarely encountered in males. Here, we will report an eighteen year old male patient who presented with flaccid quadripa...

We report two unusual patients with Rothmund-Thomson syndrome (RTS), a rare genodermatosis. The first patient is a 5-year-old girl with congenital poikiloderma, photosensitivity, plantar punctate keratoderma, stunted growth and severe mental retardation. Plantar keratoderma associated with RTS has been reported only once. The second patient is a 21-year-old female presenting with rounded "moon"...

For many years, standard-setting organizations (SSOs) have required members to commit to license standard-essential patents (SEPs) on Fair, Reasonable and Non-discriminatory (FRAND) terms. How FRAND terms can and should be interpreted has been the subject of extensive debate (as well as litigation in many jurisdictions). While we acknowledge other objectives behind these commitments, we focus h...

The aim of this study is to assess the prevalence of isolated short stature as a clinical presentation of celiac disease in Saudi Arab children and whether some of the routine laboratory tests performed to determine the cause of short stature could suggest the diagnosis of celiac disease. A total of 91 children with short stature were included in the study. Extensive endocrine and biochemical a...

PWS or may have had five of the following characteristics? Floppiness at birth. Initial failure to thrive or diYculty in sucking. The development of severe overeating and rapid weight gain in early childhood. Obesity or the need for weight control. Problems with sexual development (for example, undescended testes, delayed periods). Some learning disability (mental handicap). Small hands and fee...

V. Conditions Associated with Genetic IGF-I Resistance in Humans A. African Efe Pygmies B. Leprechaunism and other genetic disorders associated with severe insulin resistance C. Deletions of the distal arm of chromosome 15 D. Rare examples of “idiopathic” short stature associated with elevated circulating levels of IGF-I VI. Conditions Associated with Acquired IGF-I Resistance in Humans A. HIV-...