PubMed · 15764263
A case of true complete diphallia associated with imperforate anus in a 3-year-old boy is reported. The embryogenesis and classification of diphallia are discussed.
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Smail Acimi. 2004. Complete diphallia.. https://doi.org/10.1080/00365590310019981
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A case of congenital lobar emphysema associated with pulmonary sequestration, presenting with respiratory distress in infancy, is reported. The lobar hyperinflation was managed by emergency lobectomy. The ipsilateral lower lobe affected with vascular sequestration was salvaged by therapeutic embolization, thus avoiding the long-term sequelae of pneumonectomy. The case is reported for its rarity.
We present an unusual case of Currarino syndrome with a mucosa-lined deep perineal fissure extending to the sacrum, penoscrotal transposition, perineal hypospadias, and a penile ventral skin defect. The child had a sigmoid diverting colostomy because of high anal atresia. Magnetic resonance imaging illustrated absence of the levator ani and muscle complex in the pelvis. At 15 months, perianal examination pointed out a fistula orifice and a sac related to the fistula at the left side of the perineal fissure. The fistula, a fluid-filled sac extending to the sacrum, and mucosa overlying the perineal fissure were removed en bloc. The neck of the sac was ligated and divided at the level of the distal sacrum. In the same session, a Glenn-Anderson procedure was performed for penoscrotal transposition, and the penile chordee was released. X-ray showed a bony deformity of the sacrococcygeal region in the shape of a scimitar. Histopathological examination demonstrated that the sac contained glial neuronal islands and nerve fibers. The boy has no neurologic deficits and seems to be well. To our knowledge, these associated malformations are extremely rare.
We report on 20 individuals in 4 kindreds with auriculo-condylar syndrome (ACS), an autosomal dominant disorder characterized by congenital auricular clefts, mandibular condyle hypoplasia, temporomandibular joint (TMJ) abnormalities, micrognathia, microstomia, and a round facial appearance with prominent cheeks. Affected individuals have varying degrees of glossoptosis, respiratory distress, masticatory abnormalities, and malocclusion. Data from these families and those previously described suggest that this is a unique disorder with widely variable expression, including lack of obvious external anomalies in some individuals and severe ear malformations, condyle agenesis, and characteristic facial features in others. Early recognition of this condition should permit appropriate counseling and anticipatory guidance, including evaluation for reconstructive surgery and orthodontia and intervention for upper airway obstruction and sleep apnea.