Imaging studies in the diagnostic workup of neonatal nasal obstruction.

Twelve neonates presenting with nasal obstruction after birth were evaluated by imaging studies for diagnostic reasons. Four groups were recognized: Group I: choanal atresia (n = 5) and choanal stenosis (n = 1); Group II: congenital nasal pyriform aperture stenosis (CNPAS) (n = 3) and holoprosencephaly (n = 1); Group III: nasolacrimal duct mucocele (n = 1); Group IV: nasal hypoplasia (n = 1). Associated anomalies were found in eight patients. Four patients with choanal atresia showed manifestations of the CHARGE (coloboma, congenital heart defect, atretic choanae, retarded physical and neuromotor development associated with central nervous system anomalies, genital hypoplasia, and ear anomaly and/or deafness) association. In the fifth patient with choanal atresia, the diagnosis of amnion disruption sequence was made. One patient with CNPAS had a solitary maxillary central incisor (SMCI), a mild form of holoprosencephaly. Besides proboscis and synophthalmos, SMCI was also present in the holoprosencephaly case. The patient with severe nasal hypoplasia had warfarin embryopathy. This review emphasizes the need for performing imaging studies in the diagnostic workup of neonates born with nasal obstruction.

Diagnostic imaging and clinical findings in rhombencephalosynapsis: case report and literature review.

Rhombencephalosynapsis is a rare condition in which most cases are found in newborns and infants. Morphological findings are predominantly characterized by fusion of the cerebellar hemispheres and absence of the vermis with often associated supratentorial anomalies. We review the literature with emphasis on diagnostic imaging of this condition and present a case of a 2-year-old girl.

Unilateral semicircular canal aplasia in Goldenhar's syndrome.

A patient with Goldenhar's syndrome (oculoauriculovertebral dysplasia) and unilateral aplasia of all semicircular canals is presented. This is the first report of such a finding and may support the hypothesis that Goldenhar's syndrome and the CHARGE association have a common pathogenetic mechanism.

The Lacrimo-Auriculo-Dento-Digital (LADD) syndrome: temporal bone CT findings.

The temporal bone CT examination of a 16-year-old female patient with the LADD syndrome or Levy-Hollister syndrome showed multiple bilateral middle as well as inner ear malformations. Ossicular chain anomalies were seen, especially of the incus and stapes. The oval window was very narrow to absent. Both cochleas were hypoplastic and showed modiolar deficiency. A common cavity between the vestibule and lateral semicircular canal was bilaterally present.

Neurocutaneous melanosis presenting with intracranial amelanotic melanoma.

We describe imaging findings in a 2-year-old girl with neurocutaneous melanosis and malignant cerebral melanoma. Because the cerebral melanoma in this child was of the amelanotic type, high-signal intensity on unenhanced T1-weighted images was not present. The cutaneous lesions played a crucial role in establishing a correct (presumed) histopathologic diagnosis on the basis of the imaging findings. To our knowledge this is the first report describing an intracranial amelanotic malignant melanoma in association with neurocutaneous melanosis.

Chondrodysplasia punctata with multiple congenital anomalies: a new syndrome?

We report a male neonate with craniofacial dysmorphic features, multiple congenital anomalies and an unusual form of chondrodysplasia punctata. Radiographic examination revealed punctate epiphyses and coronal clefting of the thoracic spine. The hand radiographs showed some similarities to the brachytelephalangic type of chondrodysplasia punctata. However, the disorder did not fit well with any known entity of chondrodysplasia punctata or other condition characterized by punctate epiphyses.