phenylephrine-hydrochloride and Osteosclerosis

We describe a newborn girl with a lethal sclerosing bone dysplasia leading to prenatal skeletal alterations and microcephaly, proptosis, hypoplastic nose and midface, small jaw, cleft palate, hypertrophied gums, intracranial calcifications, and generalized osteosclerosis. There is a remarkable similarity between our patient and six previously reported infants subsequently categorized as having a distinct entity: Raine syndrome. Autosomal recessive inheritance is postulated based on parental consanguinity in several of the previous cases and in our patient.

Topics: Brain Diseases; Calcinosis; Exophthalmos; Facies; Female; Genes, Recessive; Humans; Infant, Newborn; Nose; Osteosclerosis; Radiography; Syndrome

Raine syndrome is an autosomal recessive condition with generalized osteosclerosis, characteristic facial dysmorphism and brain abnormalities including intracerebral calcifications. We report on a case with Raine syndrome born to nonconsanguineous couple and report the prenatal sonogram/MRI, the fetopathology, and neuropathology findings.

Topics: Autopsy; Bone and Bones; Bone Diseases, Developmental; Brain; Facial Bones; Humans; Magnetic Resonance Imaging; Male; Nose; Osteosclerosis; Prenatal Diagnosis; Stillbirth; Syndrome

Topics: Artifacts; Calculi; Dental Amalgam; Dental Cementum; Dental Enamel; Diagnosis, Differential; Exostoses; Humans; Hyperplasia; Jaw Diseases; Jaw Neoplasms; Maxillary Sinus; Mucocele; Nose; Odontogenic Tumors; Odontoma; Osteitis; Osteitis Deformans; Osteosclerosis; Paranasal Sinus Diseases; Periapical Diseases; Periapical Granuloma; Periapical Tissue; Radiography; Salivary Gland Calculi; Tattooing; Tongue; Tooth Root; Tooth, Impacted