phenylephrine-hydrochloride and Malabsorption-Syndromes

We report on a second patient with Johanson-Blizzard syndrome with full autopsy. The findings are similar to those of the one other available case, but gross or fine CNS maldevelopment was not present; although small by weight, the brain showed no cytoarchitectural disturbance. Normal intellectual development does occur in this syndrome and may relate to the variable effects of the deleterious gene on the developing CNS.

Topics: Abnormalities, Multiple; Brain; Female; Humans; Infant; Malabsorption Syndromes; Nose; Pancreas; Scalp; Syndrome

We report the case of a boy with the Johanson-Blizzard syndrome who died at the age of 8 years with complications of pancreatic exocrine insufficiency, and at autopsy was found to have a small thyroid filled with colloid, virtually complete replacement of the pancreas with adipose tissue, and a brain of normal size but with evidence of a cortical developmental defect consisting of abnormalities of gyral formation and of cortical neuronal organization. In addition the boy had postnatal growth failure, apparent severe mental retardation, congenital scalp defects and scalp hair patterning abnormalities, aplasia of the nasal alae, nasolacrimo-cutaneous fistulae, hypotonia, severe congenital sensorineural deafness, and small conical and widely spaced teeth. Evidence is accumulating that this syndrome is likely to be inherited as an autosomal recessive disorder. Our case represents the first report of autopsy findings in the syndrome.

Topics: Abnormalities, Multiple; Adipose Tissue; Child; Genes, Recessive; Humans; Hypothyroidism; Intellectual Disability; Malabsorption Syndromes; Male; Nose; Pancreas; Pancreatic Diseases; Syndrome

Topics: Deafness; Dwarfism; Hair; Humans; Infant; Infant, Newborn; Intellectual Disability; Malabsorption Syndromes; Male; Nose; Phenotype; Skin Abnormalities; Syndrome; Tooth Abnormalities

Topics: Autopsy; Cardiovascular System; Cystic Fibrosis; Ear; Female; Gallbladder; Genitalia, Female; Genitalia, Male; Humans; Intestines; Kidney; Liver; Lung; Malabsorption Syndromes; Male; Nose; Pancreas; Pharynx; Sweat Glands

Topics: Autoimmune Diseases; Conjunctiva; Contact Lenses, Hydrophilic; Female; Gastric Mucosa; Gastroscopy; Genitalia, Female; Humans; Lacrimal Apparatus; Malabsorption Syndromes; Nose; Respiratory System; Salivary Glands; Sjogren's Syndrome; Skin Manifestations; Tongue

Topics: Abnormalities, Multiple; Birth Weight; Child; Child, Preschool; Congenital Hypothyroidism; Deafness; Dwarfism; Ectodermal Dysplasia; Female; Humans; Intellectual Disability; Malabsorption Syndromes; Nose; Nose Deformities, Acquired; Tooth Abnormalities