A case of familial ectodermal dysplasia

Familial ectodermal dysplasia in a tropical area is reported. All males in the third generation were suffering from partial anodontia and hypotrichosis. They also had saddle-shaped noses and protuberant lips. The youngest boy had all deciduous teeth missing, in addition to oligodontia of the permanent dentition and hypotrichosis congenita. The sisters had normal dentition and normal hair.The parents and maternal grandmother also had normal hair, but their dentition, except that of the male parent, was reported not to be.It is suggested that the ectodermal dysplasia may be a hereditary disorder with a recessive sex-linked mode of inheritance.     

Johanson-Blizzard syndrome

Johanson-Blizzard syndrome is an extremely rare ectodermal dysplastic disorder characterized by aplasia or hypoplasia of alae nasi, midline scalp defects, growth retardation, varying degrees of mental retardation, hypothyroidism, exocrine pancreatic insufficiency and congenital deafness. This condition is supposed to be an autosomal recessive disorder. We are reporting a female neonate with the characteristic features and an uncommon less emphasized feature viz. café-aulait spots.     

Two further cases of faciodigitogenital syndrome (author's transl)

Two brothers with faciodigitogenital syndrome are presented. The family pedigree shows an X-linked recessive mode of inheritance. A favorable outcome of this syndrome in terms of final height, intelligence and life expectancy is emphasized.     

Waardenburg's syndrome associated with total aganglionosis

A Pakistani child of consanguineous parents had signs of Waardenburg's syndrome and total intestinal aganglionosis. This association seems to be a distinct clinical entity with an autosomal recessive mode of inheritance.     

A familial case of Rothmund-Thomson syndrome. A case in favor of the uniqueness of the syndrome. Association with osteosarcoma

A 7 years old girl with Rothmund-Thomson syndrome is described. A detailed study of the dermatologic lesions has been performed. The parent's girl are first cousins and one of her brothers, also having the Rothmund-Thomson syndrome, died from an osteosarcoma of the tibia at the age of 11. This familial observation gives support to the uniqueness of the Rothmund-Thomson syndrome with autosomal recessive inheritance.     

Marden-Walker syndrome. New case and discussion about its role in arthrogryposes

A new case of Marden-Walker syndrome is reported. The Marden-Walker syndrome is a rare entity associating neonatal arthrogryposis and blepharophimosis with autosomal recessive inheritance. Its place among the various syndromes with neonatal arthrogryposis is discussed.     

Waardenburg's syndrome associated with total aganglionosis.

A Pakistani child of consanguineous parents had signs of Waardenburg''s syndrome and total intestinal aganglionosis. This association seems to be a distinct clinical entity with an autosomal recessive mode of inheritance.     

Multiple pterygium syndrome

After treating a 12-year-old patient with multiple pterygium syndrome, we ascertained the minimal diagnostic criteria of pterygia in the neck, axilla, antecubital, and even popliteal areas; evidence supports autosomal recessive inheritance for this syndrome.     

Rothmund-Thomson syndrome complicated by osteosarcoma

We describe the radiological features of Rothmund-Thomson syndrome, a rare condition of autosomal recessive inheritance, which is commonly associated with a generalised skeletal dysplasia. The condition has an increased incidence of malignancy, which occasionally manifests in the musculoskeletal system. Received: 3 February 1997 Accepted: 23 June 1997     

Calcification of cartilages,brachytelephalangy and peripheral pulmonary stenosis. Confirmation of the Keutel syndrome

A 13-year-old slightly mentally retarded female is reported with diffuse calcification of the cartilage, brachytelephalangy, mixed hearing loss and peripheral pulmonary stenosis. The present observation confirms the existence of the Keutel syndrome as a distinct syndrome, with probable autosomal recessive inheritance.     

A family with Möbius syndrome

A classic M?bius syndrome, including bilateral abducens-facial paralysis, was found in a newborn boy. At least 15 maternal relatives showed partial features of the syndrome. As potential features of M?bius syndrome also were found in the father's side of the family, a recessive mode of inheritance is suggested.     

The Coffin-Siris syndrome in two siblings

Two sisters with Coffin-Siris syndrome, born to healthy unrelated parents, are reported. The accurate X-ray evaluation of the two patients allows the identification of some new features and a better delineation of the radiological phenotype. Our two cases confirm the proposed autosomal recessive inheritance of the syndrome.     

The Walker-Warburg syndrome. A new case

Walker-Warburg syndrome is a fatal cerebro-ocular malformation. It appears to be of autosomal recessive inheritance, but materno-fetal infection cannot be excluded as a possible etiology. Antenatal diagnosis consists in screening for fetal hydrocephalus. The authors report one personal case of this syndrome and a review of 34 previous observations in the literature.     

Congenital microcephaly,infantile spasms,psychomotor retardation,and nephrotic syndrome in two sibs

Two boys are described with congenital microcephaly, infantile spasms, psychomotor retardation and an early-onset nephrotic syndrome. The autopsy findings of one patient are described in detail. Polymicrogyria was the most prominent feature and the kidneys showed focal segmental glomerulosclerosis. These findings have been described as a clinical entity, the leading symptoms being congenital microcephaly, early-onset nephrotic syndrome and mental retardation, accompanied by various other clinical symptoms. A review of the literature suggests an autosomal recessive mode of inheritance.     

Whistling face syndrome. A case report and literature review.

The cranio-carpo-tarsal or "whistling face" syndrome was first described by Freeman and Sheldon in 1938. More than 60 cases with great variability of expression are known till now and autosomal dominant as well as recessive inheritance and sporadic cases suggest a genetic heterogeneity. We review 60 well-documented cases of the literature and present a patient with a severe form, who died of bronchopneumonia at the age of 9 months. The facial stigmata of his mother and the ulnar deviations of his maternal grandfather support the autosomal inheritance of the syndrome.     

Familial idiopathic hypertrophic osteoarthropathy and atopic dermatitis (Currarino's disease)]

CASE REPORT: Two brothers with a Currarino's disease are reported. Patients characteristics included a dysmorphic syndrome, cranial suture defects, hypertrophic osteoarthropathy and severe chronic eczema. COMMENTS: Consanguinity of parents suggests an autosomal recessive inheritance. CONCLUSION: Currarino's disease is a rare unknown constitutional syndrome. The age of beginning of the disease, the cranial suture defects and the chronic eczema allow to distinguish it from the others primary hypertrophic osteoarthropathies.     

Probable autosomal recessive syndrome with triphalangia of thumbs, thrombasthenia Glanzmann and deafness of internal ear

A 22-year-old woman is described who presented with triphalangeal thumbs, Glanzmann's thrombasthenia and deafness of internal ear. These are features of a probable genetically determined syndrome, which can be differentiated from other radial defect syndromes. Like in typical Glanzmann's thrombasthenia, our patient showed severely reduced concentrations of glycoprotein IIb-IIIa. The patient's parents revealed reduced concentrations of glycoprotein IIb-IIIa and were considered to be heterozygotes. Thus autosomal recessive inheritance of the bleeding disorder was demonstrated. As a consequence we suppose that the complete syndrome follows this way of inheritance.     

A new syndrome?

Two strikingly similar twin sisters presented with characteristic facial anomalies and distinctive radiographic findings. The occurrence of this unique pattern of malformations in two sisters with unaffected parents suggests recessive inheritance. They most likely represent a previously unrecognised malformation syndrome.     

Miller-Dieker syndrome: lissencephaly and monosomy 17p

Miller-Dieker syndrome, which includes lissencephaly and a characteristic phenotypic appearance, has been reported to have an autosomal recessive pattern of inheritance. However, we have found abnormalities of chromosome 17 in two of three unrelated patients with this syndrome, one with a ring chromosome 17 and the other with an unbalanced translocation resulting in partial monosomy of 17p13. A review of the literature revealed five additional patients in three families, who had Miller-Dieker syndrome and an abnormality of 17p. Thus, we propose that monosomy of distal 17p may be the cause of Miller-Dieker syndrome in some patients.     

Cerebro-costo-mandibular Syndrome: A New Familial Developmental Disorder

Three sibs with a hitherto unreported syndrome are described, the main features being mental handicap, palatal defects, micrognathia, and severe costovertebral defects, involving segmentation of most ribs and fusion of their dorsal ends to the vertebral bodies. In addition one infant had hypoplasia of an elbow together with defects of sacrum and coccyx; she and one other sib had minor dental defects. The syndrome is potentially lethal in the neonatal period; one of the sibs has survived. The inheritance is probably autosomal recessive.