Three unrelated children (one girl and two boys) have had since birth a syndrome characterized by a permanent skin rash which becomes more intense during flare-ups associated with fever, lymphadenopathy, splenomegaly, and arthritis symmetrically involving the large joints. In one boy, typical psoriasis was observed at age 3 years. In two patients, roentgenograms of the joints showed early patel...

Neonatal ultrasonography entails potential procedural hazards to the newborn infant. When performing ultrasound studies, the examiner may inadvertently move the endotracheal tube or may facilitate the spread of infection from one baby to another. The examiner should also be aware that the pressure of applying the transducer to the scalp is transmitted to the central nervous system and that the ...

INTRODUCTION Assessing the anterior fontanelle size is an important component of routine neonatal examination. For meaningful interpretation of fontanelle size, normal reference values are essential. Normal values for the fontanelle size in Sri Lankan newborns are not available. OBJECTIVES To investigate characteristics of anterior fontanelle size at birth in Sri Lankan babies. METHODS A de...

It is suggested that non-invasive techniques for measuring intracranial pressure should be suitable for use in the unsedated infant and should be capable of measuring pressure continuously. Methods described by other authors are reviewed. After investigation of 18 patients the technique relying upon the pulsation of the fontanelle described by Purin was rejected as being difficult to perform an...

We describe the clinical characterization, molecular analyses, and genetic mapping of a distinct genetic condition characterized by craniosynostosis, delayed closure of the fontanel, cranial defects, clavicular hypoplasia, anal and genitourinary malformations, and skin eruption. We have identified seven patients with this phenotype in four families from different geographic regions and ethnic b...

Noonan syndrome is a rare disorder, characterized by several malformations such as dysplasia and stenosis of the pulmonary valve, atrial septal defect and a typical pattern of hypertrophic cardiomyopathy. We describe here a 1-month old girl, who was referred to our center with seizure and apnea. She had wide anterior fontanel, head circumference and sunset eye. Intaventricular hemorrhage by son...

Hamartoma and choristoma are terms that describe non-neoplastic, mass-forming malformative lesions. Although each lesion has a different composition, they have been used interchangeably in many reports, especially for malformative lesions containing ectopic or heterologous elements. We report a three month-old girl who was brought to the clinic with a mass lesion at the posterior fontanel, comp...

We report on a newborn male patient with a terminal deletion in the long arm of the chromosome 4 with a congenital heart defect unreported before in association with this syndrome. The patient had multiple congenital anomalies including a pointed duplicated fingernail, low set posteriorly rotated ears, large anterior fontanel, micrognathia, glabellar capillary vascular malformation, and Interru...

We report an unusual combination of features comprising delayed tooth eruption and closure of the anterior fontanel as the sole presenting features in a child with cleidocranial dysplasia (CCD). Radiological survey revealed the presence of wormian bones in the skull, pseudoepiphysis at the base of the bilateral second metacarpal, and midline ossification defects at pubic symphysis in the presen...