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Biomedical subjects

C Maximilian

Publications and source records attributed to C Maximilian.

At least 19 recordsLinked to original sources
PubMed1993

Distal arthrogryposis with autosomal dominant inheritance and reduced penetrance in females: the Gordon syndrome.

A family is reported in which camptodactyly, club foot, pectus excavatum and undescended testes are transmitted as an autosomal dominant with reduced penetrance and variable expressivity, affecting 13 members through five generations. Penetrance is more reduced in females than in males and asymptomatic carriers are always females. Similar findings were previously described in two other families reported by Gordon et al. (1962) and Halal & Fraser (1979).

Abnormalities, Multiple↗
PubMed1992

Madelung deformity as a pathognomonic feature of the onycho-osteodysplasia syndrome.

On the occasion of the observation of the Onycho-osteo-dysplasia syndrome (HOOD syndrome--Nail-Patella syndrome) in a 4-generation family we were impressed by the presence of a Madelung deformity in the four examined family members. A critical review of the literature showed that a true Madelung deformity was present in a great number of previously reported patients but that no specific attention was given to this apparently important symptom.

Adult↗
PubMed1992

A syndrome of mental retardation, short stature, craniofacial anomalies with palpebral ptosis and pulmonary stenosis in three siblings with normal parents. An example of autosomal recessive inheritance of the Noonan phenotype?

We present a family with four children in which three, a girl and two boys, present a similar MR/MCA syndrome with slight to moderate mental retardation, short stature, peculiar facies with palpebral ptosis, pectus excavatum and pulmonary stenosis. As both parents are mentally and physically normal, autosomal recessive inheritance of this Noonan-like phenotype is most likely. The findings in the present family confirm that the Noonan phenotype may be caused by different etiologies with different types of genetic transmission.

Adolescent↗
PubMed1981

[Craniofacial dysostosis with diaphyseal hyperplasia].

The only family known so far to have developed cranio-facial dysostose, has been the object of a new study. Since 1962, 3 new infants affected by this disease were born and another 3 died. The syndrome is characterized by an important growth deficit, small cranium with thin skull bone, a peculiar facies with marked hypoplasia of the middle portion and mandible, multiple and various teeth anomalies. The long bones are short and bent; thickening of the cortex occurred during puberty or in the post-puberal period and seems to increase with age. The mean life-span seems normal. The syndrome is transmitted in an autosomal dominant way with great penetrating force.

Adult↗
PubMed1980

Familial partial trisomy: 6q25 leads to 6qter.

A suckling baby with microcephaly, craniostenosis, downward slanting palpebral fissues, malformed ears, cerebral, cardiac and intestinal malformation, and partial 6q25 leads to 6qter trisomy is presented. The baby is the second child of a mother with balanced translocation : 46,XX,t(2;6)(q37,q25). The first child with a similar phenotype and cardiac malformation did not undergo cytogenetic investigation and died at 4 months.

Abnormalities, Multiple↗
PubMed1979

De novo interstitial deletion del(1)(p21p32).

A girl aged 14 years 9 months, overweight, with severe psychomotor retardation, short stature, a sheep-like face, malformed ears, skeletal and dermatoglyphic abnormalities, and partial deletion of the short arm of chromosome 1 is presented. The karyotype was 46,XX,del(1)(qter to p22::p32 to pter).

Abnormalities, Multiple↗
PubMed1977

Three sisters with gonadoblastoma.

Three sisters with gonadoblastoma and an 46,XY karyotype are presented. This observation suggests that heredity may play an important role in the genesis of the tumour.

Adolescent↗