Catel-Manzke syndrome: a clinical report suggesting autosomal recessive inheritance

We describe a 3-month-old male infant with cleft palate, glossoptosis, micrognathia, and bilateral clinodactyly, an association which is characteristic of Catel-Manzke syndrome. In addition, the patient had ligamentous laxity in the knee which is a rare finding of this syndrome. The mode of inheritance of Catel-Manzke syndrome is unknown. Most cases are thought to be sporadic but the present patient with consanguinity between the parents and a possibly affected sib provide support for autosomal recessive inheritance.     

Two siblings with midline field defects and Hirschsprung disease: Variable expression of Toriello-Carey or new syndrome?

We describe 2 sibs with multiple congenital anomalies. The main manifestations include hypoplasia of the corpus callosum and/or cerebellar hypoplasia, Robin sequence, pharyngeal and laryngeal hypoplasia, abnormal ears, excessive neck skin, cardiac defect, and Hirschsprung disease. The presence in 2 sibs born to healthy, consanguineous parents suggests autosomal recessive inheritance. These anomalies must have arisen during blastogenesis; the syndrome resembles most the condition described in 1988 by Toriello and Carey (Am J Med Genet 31:17–23). © 1993 Wiley-Liss, Inc.     

The Richieri-Costa and Pereira syndrome: report of two Brazilian siblings and review of literature

Richieri-Costa and Pereira syndrome is a rare autosomal recessive disorder characterized specially by Pierre Robin sequence with cleft mandible and limb anomalies. There are a typical laryngeal anomaly which encompass short and round larynx, absent or abnormal epiglottis, and abnormal aryepiglottic folds. Most patients reported were from Brazil. We describe a brother and sister with Richieri-Costa and Pereira syndrome on another Brazilian family documenting their physical findings and laryngeal defects. We also review the literature and discuss the main clinical characteristics and etiology.     

Urinary tract involvement in EEC syndrome: A clinical study in 25 Brazilian patients

We have evaluated 25 patients (14 isolated and 11 familial cases) with the EEC syndrome for genitourinary (GU) tract anomalies through intravenous pyelogram (IVP), voiding urethrocystography, and sonographic examination. Fifty-two percent of the patients (7 isolated and 6 familial cases) had involvement of the urinary tract, with no significant difference between isolated and familial cases. The present data seem to reflect the best estimate of the prevalence of genitourinary anomalies in patients with the EEC syndrome. © 1992 Wiley-Liss, Inc.     

Marden-Walker-like syndrome without psychomotor retardation: Report of a Brazilian girl born to consanguineous parents

We report on a Brazilian girl, born to consanguineous parents and presenting a multiple congenital anomaly (MCA) syndrome, mainly characterized by blepharophimosis, cleft palate, and arachnodactyly. The clinical aspects involving this patient suggest an apparently undescribed “new” autosomal recessive syndrome.     

Autosomal recessive ectodermal dysplasia: I. An undescribed dysplasia/malformation syndrome

We describe-27 individuals of 7 families related to each other with high probability who showed manifestations of ectodermal dysplasia and other anomalies affecting females as severely as males with variable expressivity. All parents were normal. These families were detected in a relatively isolated and inbred population with very small neighbouring communities from a Carribbean Sea island, Margarita Island, in Northeastern Venezuela (Nueva Esparta State). The clinical picture common to all patients could not be classified within the heterogeneous group of known ectodermal dysplasias and the published cases do not resemble our patients. We believe that this condition constitutes a newly recognized autosomal recessive dysplasia/malformation syndrome of ectodermal dysplasia.     

Autosomal Recessive. Spondylo-epi-metaphyseal dysplasia (Irapa type) in a Mexican family: Delineation of the syndrome

Three sibs from a Mexican mestizo family affected with a spondylo-epi-metaphyseal dysplasia were studied. The clinical, radiological, and genetic findings were similar to those previously described in Venezuelan Indians of the Irapa tribe. The present patients permit confirmation of the syndrome and provide evidence for autosomal recessive inheritance. Genetic drift is postulated.     

Absence of the cerebellar granular layer,mental retardation tapetoretinal degeneration and progressive glomerulopathy: An autosomal recessive oculo-renal-cerebellar syndrome

This is a report of a 16-year-old boy with mental deficiency, shortness of stature, peculiar face and skull, multiple skeletal anomalies, limb contractures, total alopecia, and probable hypothalamic hypogonadism. A striking resemblance exists between this case and a female adolescent described in 1980 by Schinzel. It is suggested that these two cases represent a previously unrecognized syndrome. The fact that this boy was born from a first-cousin marriage suggests autosomal recessive inheritance.     

Hutchinson-Gilford progeria syndrome: report of a Libyan family and evidence of autosomal recessive inheritance

A Libyan family with the Hutchinson-Gilford progeria syndrome affecting three children of two sisters is described. The proband was ascertained because of repeated unhealing fractures. The pattern of inheritance appeared autosomal recessive.     

New syndrome: Mental retardation,microbrachycephaly, hypotelorism,palpebral ptosis,thin/long face,cleft lip,and lumbosacral/pelvic anomalies

We describe 2 Brazilian sisters with a combination of clinical signs strongly suggesting a new autosomal recessive MCA/MR syndrome. © 1992 Wiley-Liss, Inc.     

Autosomal recessive malformation syndrome with minor manifestation in the heterozygotes: A preliminary report of a possible new syndrome

We describe 3 patients with a new malformation syndrome in 2 sibships in a large kindred from Bahia, Brazil. The parents in both sibships are consanguineous. The syndrome is characterized by malformations of the face, ears, hands and feet, plus mixed deafness and pseudopapilledema. Fifty-four relatives were examined clinically and scored by the number of anomalies. A control sample of 54 individuals was equally examined. The distribution of the number of anomalies per individual (score) is bimodal in the relatives of the patients but unimodal in the control individuals. Detection of heterozygotes was based on the score distribution.     

Fronto-nasal dysostosis,callosal agenesis,crossed-fused ectopia,tibial hemimelia,and preaxial polydactyly of feet: Severe expression of the acrocallosal syndrome?

We report on a girl with frontonasal “dysostosis,” callosal agenesis, crossed-fused ectopia, tibial hemimelia, and preaxial polydactyly of feet. This pattern of the developmental defects suggests a severe form of the acrocallosal syndrome. Implications for genetic counselling are discussed. © 1993 Wiley-Liss, Inc.     

Gillespie syndrome: A report of two further cases

We describe two unrelated patients with Gillespie syndrome (partial aniridia, cerebellar ataxia, and mental retardation). The typical presentation is the discovery of fixed dilated pupils in a hypotonic infant. The iris abnormality is specific and seems pathognomonic of Gillespie syndrome. It can be distinguished clinically from other forms of aniridia and a presumptive diagnosis of Gillespie syndrome can be made in the first months of life on the basis of the ocular findings. Neurological involvement includes marked motor delay, hypotonia, disabling ataxia, and usually mental retardation. Cerebral and cerebellar atrophy with white matter changes on MRI scan were present in our second patient suggesting that patients with Gillespie syndrome may have more extensive CNS involvement than previously described. The parents of this child were first cousins; thus Gillespie syndrome may be heterogeneous with autosomal recessive and autosomal dominant forms. Am. J. Med. Genet. 71:127–129, 1997. © 1997 Wiley-Liss, Inc.     

Cockayne syndrome: Review of 140 cases

To define diagnostic criteria for Cockayne Syndrome (CS) and to identify in detail the complications of the condition, a comprehensive review of 140 cases of CS was performed. Criteria required for the diagnosis include poor growth and neurologic abnormality; other very common manifestations include sensorineural hearing loss, cataracts, pigmentary retinopathy, cutaneous photosensitivity, and dental caries. The mean age of death in reported cases is 12³/12 years, though a few affected individuals have lived into their late teens and twenties. Prenatal growth failure, congenital structural eye anomalies, severe neurologic dysfunction from birth, and the presence of cataracts within the first 3 years of life are predictors of severe disease and early death. In contrast with other disorders of chromosome or DNA repair, cancer has never been reported in a classical CS patient, and there appears to be no predisposition to infectious complications. The wide spectrum of symptoms and severity of the disease suggest that biochemical and genetic heterogeneity exist. CS is an uncommon but devastating genetic condition which will be better understood as the biochemical interrelationships between DNA replication and repair, and between growth, homeostasis, and oncogenesis are unraveled.     

Oculocerebral syndrome with hypopigmentation (Cross syndrome): report of a new case

A syndrome of ocular and cutaneous hypopigmentation, severe mental retardation with spastic tetraplegia and athetosis was first observed by Cross in three siblings of an inbred Amish family. Since then, seven other patients, three sporadic and four with familial recurrence, have been reported in the literature, confirming the autosomal recessive inheritance. The clinical spectrum of the syndrome has been expanded to include true developmental defects of the CNS such as cystic malformation of the posterior fossa of the Dandy-Walker type. We report a new case of Cross syndrome.