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PubMed1982

Congenital anomalies associated with cryptorchidism.

We reviewed 334 patients with cryptorchidism treated at our institution during a 13-year period. Other congenital anomalies were apparent on physical examination in 102 cases and these were more common in patients with bilateral cryptorchidism. Of the 205 excretory urograms done 25 showed abnormalities and, again, these abnormalities were noted more commonly in patients with bilateral cryptorchidism. Of 232 patients with asymptomatic cryptorchidism, that is with no other congenital findings on physical examination, 141 had an excretory urogram and 4 revealed some abnormality, 2 of these warranting surgical intervention. Of the 334 patients 16 had hypospadias and 50 were mentally retarded. The literature is reviewed. It is concluded that an excretory urogram is not justified on a routine basis in patients with asymptomatic cryptorchidism.

Abnormalities, Multiple↗
PubMed2004

[Progressive spastic paraplegia as a presentation of oculodentodigital syndrome].

Oculodentodigital syndrome (ODD) is a rare congenital disorder which associates eyes and facial abnormalities, defects in teeth enamel and type III syndactyly. The causal genetic defect in this syndrome is still unknown. Some patients with ODD syndrome also manifest spastic paraparesis. In most cases, inheritance is autosomal dominant with variable clinical expression. Herein, we report on a patient with ODD syndrome, who was referred for evaluation of spastic paraplegia. Our observations show that ODD syndrome can be recognized in late adulthood and revealed by spastic paraplegia.

Abnormalities, Multiple↗
PubMed1986

Congenital malformations in twins: a population study.

Malformations in twins were studied with the use of a Medical Birth Registry covering nearly all births in Sweden, 1973-1981. A total of 15,427 infants marked twins were identified and the malformation diagnoses were analyzed, comparing rates with the overall rates in the same data source. Problems in ascertainment and interpretation are discussed. No excess of neural tube defects was seen, but hydrocephaly was diagnosed more often in twins than in singletons. This can be partly, but not completely, explained by a higher rate of low-weight infants among twins. An excess was noticed in twins in the rates of cardiac defects, spine defects, gut atresias--notably esophageal and anal atresia--and severe kidney malformations. These are components of the so-called VACTERL syndrome--the last component (limb reductions) being more common in twins than in singletons, though statistical significance was not reached. A relation between monozygotic twinning and this syndrome is tentatively suggested.

Abnormalities, Multiple↗
PubMed2005

Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome.

Kabuki syndrome (KS) is a rare MCA/MR syndrome with an estimated frequency of 1/32 000 in Japan. This syndrome is characterized by postnatal growth retardation, distinctive facial features, dermatoglyphic anomalies, skeletal dysplasia, and mental retardation. The molecular basis of KS remains unknown. Recently, Milunsky and Huang reported on six unrelated patients with a clinical diagnosis of KS and an 8p22-8p23.1 duplication using comparative genomic hybridization and BAC-FISH studies. Also, they suggested that a paracentric inversion may contribute to the occurrence of KS. In the present study, 24 patients with a clinical diagnosis of KS based on Niikawa-Kuroki criteria have been collected. They were tested for the presence of an 8p duplication using the same clones as described by Milunsky and Huang. Our results do not confirm the previously described association between KS and an 8p22-8p23.1 duplication.

Abnormalities, Multiple↗
PubMed2001

Schinzel-Giedion syndrome.

A 2-month-old girl was brought to the Department of Pediatrics at Wakayama Rosai Hospital because of poor feeding since 1 month of age. She was the third child of young healthy non-consanguineous parents whose first son was healthy but whose second son had died of 18 trisomy. Physical examination showed midfacial hypoplasia with coarse dysmorphic features, choanal stenosis, remarkable abdominal distention and bilateral talipes equivarus. Abdominal ultrasonography, computed tomography and drip infusion pyelogram showed left severe hydronephrosis and right moderate hydronephrosis. Having diagnosed Schinzel-Giedion syndrome, a left ureteroneocystostomy with tailoring was performed to preserve renal functions and to eliminate the urinary tract infection at the age of 3 months.

Abnormalities, Multiple↗
PubMed2002

Investigation of a cyclopic, human, term fetus by use of magnetic resonance imaging (MRI).

Using magnetic resonance imaging (MRI), the internal neural and craniofacial malformations of a cyclopic fetus are described. External facial features were characterized by a tubular proboscis situated above a single eye slit. The brain was recognized as 'pancake' type alobar holoprosencephaly (a condition where the undifferentiated telencephalon partially surrounds a monoventricle). Displacement of some bones that normally contribute to the orbit could be clearly discerned. Absence of neural structures (e.g. falx cerebri, corpus callosum) and missing components of the ethmoid bone indicated a midline deficit. This correlates with proposed theories of cyclopic embryopathy, which suggest that the prechordal plate and the neural crest cells are affected during the third week of gestation in cyclopia.

Abnormalities, Multiple↗
PubMedDate not supplied

Incontinentia pigmenti: a case associated with cardiovascular anomalies.

Various cutaneous and developmental defects of the eyes, teeth, skeleton, and central nervous system have been detected in infants with incontinentia pigmenti. We report an isolated case of incontinentia pigmenti in a 6-month-old girl in association with tricuspid insufficiency, an abnormal shunt of the right pulmonary vein into the superior vena cava, and pulmonary hypertension. We believe that our findings will help to confirm the association of cardiovascular anomalies in IP.

Abnormalities, Multiple↗
PubMed1997

[Aicardi syndrome and acquired retinal detachment].

BACKGROUND: The Aicardi syndrome is a complex of congenital anomalies consisting of agenesis of the corpus callosum, infantile spasms and pathognomonic chorioretinal lacunar lesions. An acquired detachment of the retina was reported only in one patient. HISTORY AND SIGNS: We report about a nine-month-old girl with Aicardi syndrome. She presented the typical signs of this syndrome and an acquired detachment in both eyes. THERAPY AND OUTCOME: We performed a translimbal vitrectomy with silicon-oil instillation on the right eye. CONCLUSION: On the basis of histological findings reported in the literature we suggest a combined pathogenesis of the ablatio retinae in our patient with Aicardi syndrome: traction and foramina.

Abnormalities, Multiple↗
PubMed2005

Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.

Mutations in the GLI3 zinc-finger transcription factor gene cause Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS), which are variable but distinct clinical entities. We hypothesized that GLI3 mutations that predict a truncated functional repressor protein cause PHS and that functional haploinsufficiency of GLI3 causes GCPS. To test these hypotheses, we screened patients with PHS and GCPS for GLI3 mutations. The patient group consisted of 135 individuals: 89 patients with GCPS and 46 patients with PHS. We detected 47 pathological mutations (among 60 probands); when these were combined with previously published mutations, two genotype-phenotype correlations were evident. First, GCPS was caused by many types of alterations, including translocations, large deletions, exonic deletions and duplications, small in-frame deletions, and missense, frameshift/nonsense, and splicing mutations. In contrast, PHS was caused only by frameshift/nonsense and splicing mutations. Second, among the frameshift/nonsense mutations, there was a clear genotype-phenotype correlation. Mutations in the first third of the gene (from open reading frame [ORF] nucleotides [nt] 1-1997) caused GCPS, and mutations in the second third of the gene (from ORF nt 1998-3481) caused primarily PHS. Surprisingly, there were 12 mutations in patients with GCPS in the 3' third of the gene (after ORF nt 3481), and no patients with PHS had mutations in this region. These results demonstrate a robust correlation of genotype and phenotype for GLI3 mutations and strongly support the hypothesis that these two allelic disorders have distinct modes of pathogenesis.

Abnormalities, Multiple↗
PubMed1978

Prevalence at birth of congenital malformations in Athens, Greece, 1955--1965.

The prevalence at birth of congenital malformations in Athens was studied in a sample of 74,390 live and stillborn infants, born to women attending a large University Maternity Hospital during 1955--1965. A total of 1534 malformed infants was identified (20.62 per 1000 newborn). The prevalence of anencephalus and spina bifida is lower in Athens than in the United Kingdom, whereas the frequency of other malformations in rather similar in the two countries.

Abnormalities, Multiple↗