A 15-year-old girl developed a progressive paraparesis over a period of six months, secondary to spinal cord compression by a lipomatous mass and anomalies of the vertebral column. Clinically, a right hemihyperplasia affecting the trunk and lower limb was evident, as well as a right convex lumbar scoliosis. CT and MRI demonstrated severe spinal cord compression resulting from intraspinal lipoma...

Cowden syndrome (CS, MIM 158350) is an autosomal dominant disorder with age related penetrance characterised by multiple hamartomas and a high risk of breast, thyroid, and perhaps other cancers. These hamartomas can arise in tissues derived from all three embryonic germ cell layers, in accordance with the prominent expression of the susceptibility gene throughout human embryonic and fetal devel...

background Macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) is a craniofacial defect secondary to macrosomia; a case is presented in order to increase knowledge of the related complications in particular with respect to craniofacial development. case report We report a case of M-CMTC evaluated from the genetic standpoint and that of craniofacial development. The aim was to analys...

A 16-month-old female presented with an extensive epidermal nevus demonstrating epidermolytic hyperkeratosis on histologic evaluation. Individuals with this disorder are at increased risk of bearing children with epidermolytic ichthyosis. This occurs because the same mutations causing cutaneous somatic mosaicism may also affect the gonads. Genetic counseling is advised for individuals with exte...

Epidermal Nevus Associated with Cerebral and Ocular MR Imaging Abnormalities This letter focuses on Schimmelpenning syndrome (SS), a neurocutaneous disorder related to epidermal nevus syndromes and characterized by craniofacial nevus, neurologic anomalies, and ocular pathology. We discuss clinical and MR imaging features of a 10-year-old boy, pointing out the etiopathologic substratum of this c...

814 INTRODUCTION Beckwith-Wiedemann syndrome (BWS; MIM 130650) is a complex congenital overgrowth disorder that occurs in approximately 1/13,700 live births. A diagnosis of BWS is usually based on the presence of two out of five major characteristics in the infant: macrosomia (birth weight >97th percentile), macroglossia, neonatal hypoglycaemia, ear creases or pits and/or abdominal wall defects...

Case report The subject was born to a 22 year old mother and 30 year old father with no relevant medical history. The mother had two previous miscarriages at 10 and 12 weeks. Her antenatal ultrasound scans in this pregnancy were noted to be abnormal (ventriculomegaly, a two vessel cord, and IUGR). At 34 weeks a repeat ultrasound scan showed reduced liquor volume with no fetal breathing movement...

PIK3CA-related overgrowth spectrum (PROS) and large PIK3CA-associated lymphatic malformations of the head neck (HNLM) pose unique treatment challenges. Traditional therapies often include multiple invasive (ie, sclerotherapy or surgery) interventions with suboptimal functional cosmetic outcomes. HNLM is most common pathology in PROS, additional may facial infiltrating lipomatosis (FIL), megalen...

We report here on a case of congenital Klippel-Trenaunay syndrome with vascular abnormalities in the central nervous system. A 15-year-old male patient was hospitalized for headache. The neurological examination revealed that the patient was physiognomically sluggish and unresponsive. A general examination found that the right upper arm and the left lower leg of the patient displayed hemihyperp...

Background: In patients with a congenital or developmental limb-length discrepancy, the short limb grows at a rate proportional to that of the normal, long limb. This is the basis of predicting limb-length discrepancy with existing methods, which are complicated and require multiple data points. The purpose of our study was to derive a simple arithmetic formula that can easily and accurately pr...