Korean J Perinatol.  2012 Sep;23(3):193-197.

A Case Report of Beals Syndrome with Hydrocephalus

• Shin WS
• Choi IR
• Kim SH
• Lee JH
• Park MS

Abstract

Beals syndrome, also known as Beals-Hecht syndrome or congenital contractural arachnodactyly, is a rare, autosomal dominant connective tissue disorder. It is characterized by crumpled ears, arachnodactyly, congenital contractures and scoliosis. A male infant of 37+5 weeks of gestation, and with birth weight of 3170 grams, had features of a long and narrow face, bilateral crumpled inferior helix, prominent antihelix of the ears, bilateral arachnodactyly, clenched position of the hands and flexion contractures of the elbows and knees. The infant had tachypnea and chest retractions shortly after birth, and was diagnosed with transient tachypnea of newborn with pneumothorax. He was subsequently treated with positive pressure ventilation and chest tube insertion. Chromosomal karyotype analysis was normal and screening for Marfan syndrome was negative. Echocardiographic findings were unremarkable. Cranial ultrasonography showed a left lateral ventricle dilatation of 0.5 cm and increase up to 1.2 cm on follow up. Brain MRI showed a progression of dilatation of the left ventricle, and a ventriculo-peritoneal shunt was done at 3 months of age. We present a case of a newborn male with Beals syndrome, accompanied with ventricular dilatation and progression to hydrocephalus that has not been previously reported.

Keyword

Beals syndrome; Congenital contractural arachnodactyly; FBN2 protein; Hydrocephalus

MeSH Terms

Arachnodactyly
Birth Weight
Brain
Chest Tubes
Connective Tissue
Contracture
Dilatation
Ear
Elbow
Follow-Up Studies
Hand
Heart Ventricles
Humans
Hydrocephalus
Infant
Infant, Newborn
Karyotype
Knee
Lateral Ventricles
Male
Marfan Syndrome
Mass Screening
Parturition
Pneumothorax
Positive-Pressure Respiration
Pregnancy
Scoliosis
Tachypnea
Thorax
Transient Tachypnea of the Newborn
Ventriculoperitoneal Shunt
Arachnodactyly
Contracture