Biomedical subjects

M Cvitković

Publications and source records attributed to M Cvitković.

3 recordsLinked to original sources

PubMed1996

[The Cohen syndrome].

A girl with Cohen syndrome is presented. The diagnosis has been established on the basis of the characteristic face appearance with hypoplastic maxilla and mandible, open mouth, prominent maxillary central incisors, as well as characteristic appearance of extremities (narrow hands and feet), childhood obesity, hypotonia, and mental insufficiency. The girls also has the so-called "mottled retina". The attempts of weight reduction have been unsuccessful so far.

Abnormalities, Multiple↗

PubMedDate not supplied

[The Dubowitz syndrome].

A 27-month-old girl with Dubowitz syndrome, a rare autosomal recessive disorder, is presented. The diagnosis was established by a series of symptoms typical for this syndrome: intrauterine and postnatal growth retardation, microcephaly, recurrent diarrhea and respiratory infections, characteristic craniofacial anomalies such as epicanthus, nasal dysplasia with broad nasal bridge in line with forehead, thin hair, micrognathia, large mouth, dysplastic ears, brachyclinodactyly, pectus excavatum and pilonidal sinus. Hyperactivity in behaviour was obvious, and she had a very high pitched voice. Sacral cleft and wide opened frontal fontanelle found in our patient could be new signs, not yet seen in this syndrome. Necessity of regular follow-up of these patients is stressed due to the rather high incidence of malignant diseases and diseases of the hematopoetic system, respectively.

Abnormalities, Multiple↗

PubMedDate not supplied

[Trichorhinophalangeal syndrome].

A girl with tricho-rhino-phalangeal syndrome is described. Besides clinical and radiologic symptoms of type I of this syndrome (short stature, pear-shaped nose, prominent and elongated philtrum, small carious teeth, thin and sparse hair, badly shaped laterally protruding ears, deep voice, cone-shaped phalangeal epiphyses as well as shortening of metacarpal and metatarsal bones) the patient exhibits a group of abnormalities characteristic for type II (broad nasal bridge, thicker septum, laterally postured nostrils, heavier eyebrows, mild deafness and epilepsy). The girl also has the symptoms of primary hypothyroidism because of the ectopic thyroid gland, the first recorded instance up to now, so it is probably a coincidence.

Child↗