Scriver type autosomal hypophosphatemic rachitis: a family case

A familial observation of hypophosphatemic rickets with unusual inheritance and evolution, different from that of X linked hypophosphatemia, is reported. The mode of inheritance was autosomal dominant, a father and his son being affected. Severe early signs of rickets and delayed growth were present in both cases. Plasma 1,25 dihydroxyvitamin D and PTH levels were normal. There was no hypercalciuria. Complete cure of rickets and catch-up growth were obtained with the only treatment of vitamin D (40,000 U/day) in the father and of 1 alpha hydroxyvitamin D (1 microgram/day) in the son. This observation is quite similar to the 'autosomal hypophosphatemic bone disease' described by Scriver et al. It illustrates the heterogeneity of familial hypophosphatemia which presently includes 4 different physiopathological entities.     

Persistent hyperplastic primary vitreous in association with neurofibromatosis 2

We describe a father and son with persistent hyperplastic primary vitreous occurring in association with neurofibromatosis 2. This report demonstrates rare vertical transmission compatible with autosomal dominant inheritance and the uncommon association of the autosomal dominant systemic disorder neurofibromatosis 2.     

Isolated growth hormone deficiency: Two families with autosomal dominant inheritance

Two families, each with a father and a son affected by isolated growth hormone deficiency, are described. The inheritance in these cases seems to be due to an autosomal dominant gene. Isolated growth hormone deficiency appears to be a heterogeneous condition.     

Keratosis follicularis decalvans: nosological discussion of Siemens' disease. Apropos of 3 cases

We describe 3 cases of keratosis follicularis decalvans (Siemens' disease): a 15 year old boy and a 7 year old boy and his father. They represent 2 different patterns of the disease with different clinical courses and genetic background: an autosomal dominant type of good prognosis with elevated argininemia and absence of follicular atrophy in both father and son, a sporadic type, clinically severe, with follicular atrophy. This raises the question of the nosology of the so-called Siemens' disease, since it includes actually different diseases of variable prognosis.     

Father-to-son transmission of hypogonadism with anosmia: Kallmann's syndrome.

Gonadal and olfactory features of Kallmann's syndrome, usually considered to be inherited as an X-linked recessive trait, were found in a father and son who both had cryptorchidism, hypogonadism, and hyposmia. The father's fertility had been induced with chorionic gonadotropin, leading to the birth of three children. Olfactory and gonadal functions were normal in the mother and two siblings. The father had low basal plasma testosterone and subnormal follicle stimulating hormone (FSH) response to luteinizing hormone-releasing hormone (LH-RH). The affected son and his healthy brother were prepubertal. Their basal plasma total and free testosterone, serum FSH and luteinizing hormone (LH), and response to LH-RH were similar. The clinical presentation and formal olfactory function studies were considered most helpful for the suggestive diagnosis of Kallmann's syndrome in children. The occurrence of this syndrome in this family is consistent with autosomal dominant inheritance.     

Hirschsprung disease: Paternal transmission to a son

Hirschsprung disease (HD) is genetically heterogeneous with approximately 4% familial occurrence. The recurrence risk is higher in patients with severe involvement. We describe the transmission of histotopochemically proven HD from a father with long aganglionic segment disease to a son with ultrashort segment disease. This observation suggests that the length of involvement in HD is related to the variable expression of the gene defect. It also suggests autosomal dominant inheritance of HD.     

Tetralogy of Fallot in a father and son

A family is reported on, in which the tetralogy of Fallot is present in the father and the eldest son. In both the patients a total correction took place. The mother and the second son are healthy.     

Familial pancreatic enzyme insufficiency.

A father and son with profound reduction of exocrine pancreatic activity and little visible pancreatic tissue on ultrasound or computed tomography are described. Both have some degree of liver disease, which is more marked in the son. The disorder, apparently familial, does not correspond to any reported previously.     

Diamond-Blackfan syndrome in father and son

ABSTRACT. The occurrence is reported of Diamond-Blackfan syndrome in father and son, documented in both by bone marrow bisopsy in infancy. Autosomal dominant inheritance is postulated in this family.     

Idiopathic Intussusception Occurring in Father and Son, with a Post-operative Intussusception in the Son

Thomas, M. P. and McKay, D. G. (1979). Aust. Paediatr. J. , 15, 281–282. Idiopathic intussusception occurring in father and son, with a post-operative intussusception in the son. Idiopathic intussusception occurring in father and son is uncommon, as is the occurrence of an ileo-ileal intussusception following operative reduction of the ileo-caecal intussusception. The original ileo-caecal intussusception was treated operatively in both father and son, because of failure of attempted hydrostatic reduction. The father's post-operative convalescence was uneventful. The son developed a mechanical obstruction 36 hours after operation, due to an ileo-ileal intussusception which was easily reduced at a further laparotomy. Six weeks later he was re-admitted with a recurrent ileo-colic intussusception and this was successfully treated by hydrostatic reduction.     

Spondylothoracic dysplasia (Jarcho-Levin syndrome) in a Chinese baby

Spondylothoracic dysplasia (STD) syndrome or the Jarcho-Levin syndrome has been seen commonly in Puerto Ricans. A case of STD syndrome in a Chinese baby which we believe is the first reported case in an Asian baby is reported. The skeletal disorder syndrome affecting the spine, ribs and thorax is an autosomal recessive disorder with associated non-skeletal anomalies. It should not be confused with the phenotypically similar skeletal disorder known as spondylocostal dysplasia, which is an autosomal dominant disease.     

Nephronophtisis in a child whose father has isolated ocular involvement

The Senior and Loken's syndrome is a condition associating nephronophtisis and tapetoretinal degeneration. The case reported had a quite unusual transmission: isolated ophthalmologic impairment in the father, isolated renal impairment in the son. Thus, the genetic transmission of this syndrome is probably not univocal.     

The Greig polysyndactyly craniofacial dysmorphism syndrome: Variable expression in a family

A severe expression of the Greig polysyndactyly-craniofacial dysmorphism syndrome is reported in two dizygotic 4-month-old twin brothers. A minor expression of this autosomal dominant syndrome was present in the father.Paediatrician Sint-Imeldaziekenhuis, B-2820 Bonheiden, Belgium     

Hereditary atrioventricular conduction defect in a child

Summary Hereditary atrioventricular conduction defect is an uncommon cause of acquired complete heart block in children. We report a father and son, both of whom presented with seizures as the initial manifestation of acquired complete heart block and required permanent pacemaker implantation. A review of the variations of this entity and the histopathological findings of previously reported cases is presented. Family members of patients with acquired heart block of uncertain etiology should be examined for the presence of conduction abnormalities that may progress to complete heart block.     

Familial syndromic duodenal atresia: Feingold syndrome.

Familial duodenal atresia occurs as part of Feingold syndrome. Other features of this variable autosomal dominant condition include tracheo-oesophageal fistula and oesophageal atresia, microcephaly, hand and foot anomalies, facial dysmorphism, and developmental delay. We report a father and two sons with Feingold syndrome. One has bilateral dysplastic kidneys which have not been reported previously.     

Cerebro-costo-mandibular syndrome

Cerebro-costo-mandibular syndrome is a rare disorder characterized by rib malformations, various degrees of cerebral maldevelopment, mental deficiency, palatal defects, and micrognatia. This syndrome was first described in 1966. The majority of cases are sporadic, but a few instances of familial occurrence have been reported, some with an autosomal recessive pattern of inheritance. Mortality in early age has been high, probably mostly due to respiratory insufficiency secondary to rib abnormalities and flail chest. We report a mother and son with this disorder, suggesting autosomal dominant transmission. Received: 8 June 2000 Accepted: 3 August 2000     

A new hereditary bone dysplasia with characteristic bowing and thickening of the distal ulna

An autosomal dominant hereditary bone dysplasia was observed in three members of a Sardinian family living in Germany — the father and two sons. The guiding clinical symptom is thickening of the wrist proximal to the styloid process of the ulna.The radiologically recognizable changes — non-calcified cartilaginous islands protruding like cones into the metaphysis — begin with the onset of puberty and are not always associated with pain.Varying degrees of thickening and bowing of the relatively poorly mineralized metaphyseal region, particularly of the distal ulna, occur at the end of skeletal development.Thickening of the dorsum sellae is also characteristic. Serum calcium levels remain slightly elevated throughout life. The metatarsals, metacarpals and the distal fibula are dysplastic to varying degrees. The two boys display a coxa valga. Skeletal development is retarded. A developmental disorder of the vertebral column may form part of the condition, which defied allocation to any of the acknowledged forms of skeletal disease.     

When disclosing a serious diagnosis to a minor conflicts with family values

An 11-year old Asian-Indian boy was recently discovered to have acute myelogenous leukemia. The pediatric hematologist-oncologist arranged a meeting to inform the parents about the diagnosis, prognosis and treatment. The physician planned to include the child in this process. However, the child's father, a computer programmer, made a request that his son should not be informed about the diagnosis of leukemia. The father asked that his son should be told that he has a severe infection and will require intensive treatment. The oncologist then informed the father that, as a physician, she has the responsibility to truthfully disclose the diagnosis to a patient, and she insisted on informing the child about the leukemia in an open and truthful manner.     

The widened spectrum of multiple cartilaginous exostosis (MCE)

2 brothers with possible homozygous multiple cartilaginous exostosis (MCE) are reported. The MCE-PD-(Peripheral Dysostosis) syndrome is discussed. A family (father, daughter and son) with Metachondromatosis is presented, and the tendency to spontaneous remission in this condition is emphasized. A “second thought”, when considering the diagnosis of MCE, seems worthwhile.     

A new genetic disorder: Autosomal-dominant multiple benign ring-shaped skin creases

We describe two families with autosomal-dominant transmission of benign ring-shaped skin creases: a father and his son with cleft palate and localized neuroblastoma in one family and a father and his two daughters-one with median cleft palate-in the second family, who showed circular skin creases on both arms and fingers, which almost disappeared in later life. Multiple benign deep ring-shaped skin alterations in a newborn of a third family are suggestive for a new dominant mutation. Our new observations should not be confused with amniotic ring constrictions.