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At least 19 recordsLinked to original sources
PubMed1979

[Pseudoxanthoma elasticum associated with Marfan syndrome (author's transl)].

We described a 26-year-old man whose brother has a mottled fundus. Many maternal relatives suffer from myopia and heart disease, and one cousin has arachnodactylia. The patient is very tall and shows various abnormalities such as arachnodactylia, highly arched palate, funnel chest and scoliosis. He also shows hyperextensibility of joints, inguinal hernia, dissecting aneurysm of ascending aorta, dilatation of aortic ring, aortic and mitral insufficiency, myopia and striae distensae. These findings are that of Marfan's syndrome. At the same time, we noticed yellowish papules on the neck, axillae, inguinal region and inner aspect of thighs. Brown patches were found around umbilicus. These skin lesions as well as angioid streaks of fundus are typical for pseudoxanthoma elasticum. This case should be an association by chance of these two genetic affections.

Adolescent↗
PubMed1992

Report of a Japanese girl with Marfan syndrome associated with insulin-dependent diabetes mellitus.

A 3 year old girl was admitted to hospital in an emaciated condition and with polydipsia in October 1974. Following the diagnosis of diabetes mellitus, she received treatment with insulin. On the first admission, a systolic murmur was noted at the apex of the heart. In 1981, the murmur was found to be continuous with a systolic click, and echocardiography demonstrated a mitral valve prolapse. In 1982, electrocardiography revealed left ventricular hypertrophy, and the patient's X-ray showed vertebral kyphoscoliosis. Ophthalmological examination revealed slightly impaired visual acuity and a mild case of cataracts in 1986. The patient grew to be tall and thin with arachnodactylia of the hands, fingers, feet and toes. These symptoms and findings were compatible with Marfan syndrome, although the ophthalmological findings are not specific for this disease. This patient is the first case in Japan of Marfan syndrome associated with insulin-dependent diabetes mellitus, although the relation between Marfan syndrome and IDDM remains unclear.

Cataract↗
PubMed1988

The Marfan syndrome with an XYY chromosome pattern.

A 36-year-old man who was diagnosed to have the Marfan syndrome with an XYY chromosome pattern is reported. He was tall with long limbs and arachnodactylia, and had severe aortic regurgitation (AR). The chromosome pattern studied in specimens of blood and bone marrow revealed an XYY chromosome pattern. The relationship between the Marfan syndrome and an XYY chromosome pattern is discussed.

Adult↗
PubMed1989

[Aortic disruption after operation for pectus excavatum in a infant with Marfanoid hypermobility syndrome].

An elective correction of pectus excavatum was carried out in a 5-year-old boy who subsequently died on the sixth postoperative day from rupture of descending aorta. The rupture which was longitudinal disruption 5 cm in length occurred 3.2 cm distal to the orifice of the left subclavian artery. Histological examination revealed that cystic medial necrosis was present in the thoracic and abdominal aorta. This boy had a slightly tall frame, arachnodactylia, hyperextensibility of the joint, but no ocular symptoms. His skin was excessively elastic and friable. Although he had been identified with characteristics to neither Marfan syndrome nor Ehlers-Danlos syndrome, he was thought to be with Marfanoid hypermobility syndrome. Since aortic dilatation was 4.6 cm in diameter and no valvular involvement was detected preoperatively, only the cosmetic surgery for the pectus excavatum was made. The correction of pectus excavatum might be a trigger of aortic disruption. We must mention that aortic disruption may be occur besides the dilated portion in case of connective tissue disease.

Aorta, Abdominal↗
PubMedDate not supplied

[Differential diagnosis of hand and finger changes from a rheumatologic viewpoint].

Polyarthralgias are widely common complaints. In earlier stages it might be difficult to state the right diagnosis. Differential diagnosis is absolutely necessary for starting in time with the right treatment. Out of a great clinical material the following diseases causing mono-, oligo- or polyarthralgia were discussed: enchondral dysostosis (osteochondrodysplasia) Marfan's syndrome (arachnodactylia), Ehlers-Danlos syndrome (elastic fibrodysplasia), Kaposi's sarcoma (multiple idiopathic hemorrhagic sarcoma) and a disease involving the connective tissue localized in different cutaneous regions. All discussed diseases showed no primary involvement of the synovial membranes of the joints and differed by that from inflammatory joint diseases.

Diagnosis, Differential↗
PubMed1997

[Caudal regression syndrome associated with Klippel-Feil syndrome].

In this paper, one case of syndrome of caudal suppression associated with a syndrome of Klippel Feil is discussed. It concerned a 14 years old boy, born form a diabetic mother with congenital abnormalities such as: urinary incontinence, facial dysmorphia, a short neck, an arachnodactylia, a lumbar kyphosis, a permanent flexion of the knee, a kalipe cavus, the spine, a partial agenesis of the third and fourth lumbar vertebrae a total agenesis of the fifth and sacrum; This syndrome is infrequent and the pathophysiological mechanisms are still under discussion and no therapeutic strategy is proposed. This case offers an opportunity to the authors to make review of the medical literature on this subject. They emphasized on the interest to look for a vertebro-medullary malformation every time a child comes to us with walking problem or enuresia, this fact should be enforced when mother is diabetic.

Abnormalities, Multiple↗