phenylephrine-hydrochloride and Hypospadias

The combination of complex congenital heart disease (double outlet right ventricle with pulmonary atresia, malalignment ventriculoseptal defect, right-sided aortic arch with left ductus arteriosus) and bladder exstrophy occurred in an infant with Opitz syndrome. Neither of these defects has previously been reported in association with Opitz syndrome. These malformations, which are midline defects, further characterize this syndrome as an impairment in midline development. The spectrum of congenital heart disease and genitourinary anomalies seen in Opitz syndrome is reviewed.

Topics: Abnormalities, Multiple; Bladder Exstrophy; Ear; Echocardiography; Heart Defects, Congenital; Humans; Hypertelorism; Hypospadias; Infant, Newborn; Male; Nose; Pulmonary Atresia; Syndrome; Testis

We report on a family where the propositus had G syndrome, including laryngeal cleft, and another relative had the facial anomalies typical of the BBB syndrome. We review the literature on the BBB and G syndrome, and argue that no clinical or laboratory criteria permit a differential diagnosis of the two syndromes. Therefore, we suggest that they should be considered variable expression of the same gene. The name BBBG syndrome is proposed for the amalgamated syndrome.

Topics: Abnormalities, Multiple; Adult; Diagnosis, Differential; Face; Female; Genes, Dominant; Humans; Hypertelorism; Hypospadias; Infant, Newborn; Intellectual Disability; Larynx; Male; Nose; Pedigree; Syndrome

Topics: Abnormalities, Multiple; Adult; Child, Preschool; Craniofacial Dysostosis; Deglutition Disorders; Ear; Face; Female; Humans; Hypertelorism; Hypospadias; Male; Micrognathism; Nose

We report on a boy with proximal interstitial deletion of chromosome 4, del(4)(q21.22q23). The patient was born at term with a low birth weight, flat nasal bridge, micrognathia, wide-spaced nipples, clinodactyly of fifth fingers, overlapping fingers, post-axial polydactyly of the right foot, micropenis, hypospadias, a dermal sinus, and cardiac malformations. He developed psychomotor retardation, seizures, and a liver tumor with an increased serum alpha-fetoprotein level and rapid growth. The patient carried a deletion of chromosome 4 involving the 4q21-q22 region that was reported to form a unique syndrome. The absence of central nervous system overgrowth and the presence of a malignant liver tumor are unique to our patient, compared to others with the 4q21-q22 deletion syndrome. The clinical manifestations and relationship between the liver tumor and chromosomal anomaly are discussed.

Topics: Abnormalities, Multiple; Birth Weight; Chromosome Deletion; Chromosomes, Human, Pair 4; Heart Defects, Congenital; Humans; Hypospadias; Infant; Japan; Karyotyping; Liver Neoplasms; Male; Nose; Penis; Polydactyly; Psychomotor Performance

We report on a newborn male with deletion of part of 11q, the 27th reported case. Our patient had some of the clinical characteristics of the 11q- syndrome, but his male gender, liveborn status, q21 breakpoint, and mosaicism were unusual. In addition, he demonstrated holoprosencephaly, with cyclopia and arhinencephaly, manifestations previously unreported in the 11q- syndrome. We discuss the above points and review the literature on 11q-.

Topics: Abnormalities, Multiple; Brain; Chromosome Deletion; Chromosomes, Human, Pair 11; Ear, External; Eye Abnormalities; Humans; Hydrocephalus; Hypospadias; Infant, Newborn; Male; Mosaicism; Nose; Syndrome

The plastic surgeon is not a miracle worker, as so many of his patients believe. Nevertheless, he can do much to minimize the functional and cosmetic effect of many congenital deformities. If a moral can be drawn from this article it must be that the plastic surgeon should be given an early opportunity to see and assess the patients described here, if only to ease the anxiety in the minds of their parents by appropriate reassurance and discussion.

Topics: Arteriovenous Malformations; Breast; Congenital Abnormalities; Dermoid Cyst; Ear; Female; Fingers; Humans; Hypospadias; Leg; Lymphangioma; Lymphedema; Male; Nevus; Nevus, Pigmented; Nose; Skin Neoplasms; Surgery, Plastic; Vagina; Wrist

Topics: Congenital Abnormalities; Disorder of Sex Development, 46,XY; Disorders of Sex Development; Eye Manifestations; Face; Facial Expression; Female; Foot Diseases; Genetics, Medical; Hand Deformities; Humans; Hypospadias; Infant; Infant, Newborn; Intellectual Disability; Jaw; Male; Microcephaly; Movement Disorders; Nose; Nose Deformities, Acquired; Pyloric Stenosis; Retrognathia; Skin Manifestations; Strabismus