Hypospadias and Other Anomalies Associated With Partial Deletion of Short Arms of Chromosome No. 4

Leão, José Carneiro; Neu, Richard L.; Gardner, LyttI.

doi:10.1016/s0140-6736(66)91501-7

Cited by 20 publications

(1 citation statement)

References 6 publications

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“…As for trisomy 13 (Patau syndrome), expressivity of its symptoms has been described as being very varied (Mayer et al, 1979(Mayer et al, , 1985; patients may present with some of the ocular symptoms of the 4 p-deletion syndrome, e.g, microphthalmos, hypertelolrism, shallow supraorbital ridges, absent eyebrows, slanting palpebral fissures, iris coloboma, cataracts, corneal opacities, vascularized membrane formations. Intraocular cartilage as well as persisting hyperplastic primary vitreous or tapetoretinal dystrophies that have been found in trisomy 13 have never been described iin the 4 p-syndrome (Cogan 8z Kuwabara, 1964;Cordier et al, 1971).…”

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confidence: 99%

Ocular findings in a 4 p- deletion syndrome (Wolf-Hirschhorn)

Mayer¹,

Bialasiewicz²

1989

Ophthalmic Paediatrics and Genetics

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The ocular findings in a newborn with Peters' anomaly and opacity of the lens led to a search for a chromosomal deletion syndrome, confirmed by DNA autoradiography as a partial monosomy 4, Wolf-Hirschhorn syndrome. The child was followed for 13 months. Multiple physical anomalies were observed including incomplete nasal cleft, cerebellar malformations, congenital heart defects, renal malformations, inguinal hernia, malformations of thumbs and toes. Broad beaked nose, broadened nasal root, epicanthus, defect of the medial half of the eyebrows, right-sided facial hypoplasia were the periocular findings. Bilateral microphthalmos, Peters' anomaly with cataracts, and posterior chambers without evident pathology, were found. If the physical development stays satisfactory, anterior segment reconstructive procedures including lensectomy and corneal grafting may prove successful.

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mentioning

confidence: 99%

Ocular findings in a 4 p- deletion syndrome (Wolf-Hirschhorn)

Mayer¹,

Bialasiewicz²

1989

Ophthalmic Paediatrics and Genetics

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New Syndrome Associated With Partial Deletion of Short Arms of Chromosome No. 4

Leão¹

1967

JAMA

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Clinical and cytogenetic findings in a male infant with partial deletion of the short arms of a No. 4 chromosome are described. The clinical findings in the seven known cases (labeling studies have been done in five) were compared in relation to those in the cat cry syndrome. Features characteristic of the No. 4 deletion syndrome are an absence of cat-like cry, seizures, prominent glabella, midline scalp defects, deformities of the iris, cleft lip and palate or high-arched palate, preauricular dimple, misshapen nose, hypospadias in male infants, and hypoplasia of the dermal ridges. The No. 4 deletion syndrome is considered to be an entity distinct from the cat cry syndrome.A MALE INFANT with partial deletion of the short arms of a No. 4 chromosome was reported from this laboratory in 19661; since then cytoge¬ netic and autoradiographic studies have been done and follow-up clinical data have been obtained dur¬ ing the patient's first year of life. Report of a CaseThis child was the product of the fourth pregnancy for his 25-year-old mother and 27-year-old father, both of Italian descent. The mother's first pregnancy five years earlier resulted in a spontaneous abortion in the first tri¬ mester. A second pregnancy, the following year, produced a normal girl who has had no subsequent difficulties. The third pregnancy, two years later, terminated eight weeks after the mother contracted a rubella-like syndrome with a spontaneous abortion in the third gestational month. The patient was born about V-/i years later via cesarean sec¬ tion, two weeks before the expected date of confinement. During gestation, the mother had experienced several epi¬ sodes of mild upper-respiratory tract infections but was treated with no known teratogenic agents. The patient weighed 1.8 kg (4 lb 8 oz) at birth and had the following measurements: head circumference, 30.0 cm; chest circum¬ ference, 25.5 cm; and length, 43.8 cm. Shortly after birth it was observed that the infant had "widely spaced eyes," a small penis with first degree hypospadias, undescended testes, and bilateral inguinal hernias. An intravenous pyelogram done at that time was reported as showing no obvious renal anomalies. Histologie examination of the umbilical cord revealed the expected two arteries and one vein, but one of the arteries was said to be obliterated. The infant was kept in an incubator with a warm, moist at¬ mosphere and oxygen. No episodes of cyanosis, jaundice, or convulsions occurred during this period. He was fed by gavage. At age 1 month, with a weight of 2 kg (4 lb 6 oz), he was discharged from the hospital on a regimen of syn¬ thetic enriched cow's milk preparation (Alacta) with sup¬ plemental vitamins and iron (Fig 1). Two weeks later, when seen by the family physician, he weighed 2.6 kg (5 lb 12 oz) and was 47.5 cm long.The child was first seen at the Upstate Medical Center at age two months. The parents described him as being a very inactive child, unresponsive to visual or auditory stimuli. During meals he would frequently begin to cry for no obvi...

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