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Biomedical subjects

Y Lacassie

Publications and source records attributed to Y Lacassie.

At least 19 recordsLinked to original sources
PubMed1997

Syndrome of microcephaly, facial and hand abnormalities, tracheoesophageal fistula, duodenal atresia, and developmental delay.

We report on six new families (12 new patients) with the syndrome of microcephaly, facial and hand abnormalities, tracheoesophageal fistula, duodenal atresia, and developmental delay. The most common findings were hand abnormalities, microcephaly, short and/or narrow palpebral fissures, broad nasal bridge, anteverted nostrils, ear abnormalities, and micrognathia. Inheritance is autosomal dominant. There is a significant amount of intrafamilial variability especially as it relates to the gastrointestinal findings. Although the first patients reported, who were very young, did not exhibit any developmental delay, they subsequently did develop learning problems, and 87% of our 12 patients had mental retardation or learning difficulties.

Abnormalities, Multiple↗
PubMed1997

Radiological and orthopedic abnormalities in Satoyoshi syndrome.

Satoyoshi syndrome is a rare disorder of unknown etiology characterized by progressive, painful intermittent muscle spasms, severe skeletal abnormalities mimicking a skeletal dysplasia, malabsorption, alopecia, and amenorrhea. We further report on a 20 1/2-year-old Caucasian woman with characteristic manifestations of the syndrome. Since the establishment of the diagnosis 1 year ago, she has been treated with prednisone with good response. However, treatment of the multiple deformities and fractures has been difficult and challenging. The early recognition and treatment of this disorder is of utmost importance, as the skeletal deformities and fractures seem to be secondary to the muscular spasms, as suggested by Satoyoshi.

Adult↗
PubMed1995

Satoyoshi syndrome: an unusual postnatal multisystemic disorder.

Satoyoshi syndrome is a rare disorder of unknown cause characterized by progressive, painful intermittent muscle spasms, malabsorption, alopecia, amenorrhea, and skeletal abnormalities mimicking a skeletal dysplasia. We describe a 19-year-old Caucasian woman with characteristic manifestations starting at age 9. The report of this patient confirms that this condition is not limited to the Asian population.

Adult↗
PubMed1995

Ectrodactyly and proximal/intermediate interstitial deletion 7q.

We report on an individual with severe mental retardation, seizures, microcephaly, unusual face, scoliosis, and cleft feet and cleft right hand. The chromosomal study showed a proximal interstitial deletion 7q (q11.23q22). From our review of the literature, 11 patients have been reported with ectrodactyly (split hand/split foot malformation) and proximal/intermediate interstitial deletions or rearrangements of 7q. The critical segment for ectrodactyly seems to be located between 7q21.2 and 7q22.1. This malformation is present in 41% of the patients whose deletion involves the critical segment.

Abnormalities, Multiple↗
PubMed1990

Perthes-like disease and the tricho-rhino-phalangeal syndromes: the first black patient.

The TRPS I has been reported in European, Asian, Australian, and North American populations. To the best of our knowledge, this is the first case reported in the black population. Like many patients with this syndrome, it was the presence of "Perthes-like" disease that eventually lead to the diagnosis. This hip complication is very common, and often bilateral. A review of the literature stresses the importance of early diagnosis in that many patients are presenting late with severe degenerative arthritis. When present, "Perthes-like" changes should direct the observer to look for the abnormal hair and facies that are typical of these syndromes. Radiographs of the hands should also be obtained which will usually reveal the characteristic cone-shaped epiphyses. Clinical or radiographic evidence of multiple cartilaginous exostoses is diagnostic of TRPS II in the presence of other stigmata of the tricho-rhino-phalangeal syndrome (TRPS I).

Braces↗
PubMed1989

Expanded phenotype and ethnicity in Setleis syndrome.

Setleis syndrome, an autosomal recessive disorder characterized by "coarse" face, temporal cutis aplasia, double upper eyelashes, absent lower eyelashes, chronic conjunctivitis, and prominent thick lips, was reported previously in 8 Puerto Rican children. We report on 3 unrelated children (one mentally retarded) with Setleis syndrome who are not of Puerto Rican descent. Two of our patients had imperforate anus, which has not previously been reported. The evolution of the phenotype over time is illustrated.

Abnormalities, Multiple↗
PubMed1986

An unusual case of ectodermal dysplasia.

The syndrome was characterized by striking hypoplasia of nails, malformations of hands and feet, curly hair, small lower teeth and seizures. There were no similarly affected relatives. Death occurred at 31 months with the patient apparently in status epilepticus with terminal hepatorenal syndrome.

Child, Preschool↗
PubMed1978

Poor predictability of lactose malabsorption from clinical symptoms for Chilean populations.

Clinical symptoms and lactose malabsorption may occur in persons intolerant to lactose. To predict malabsorption from symptoms and age, the authors used simple regression, multiple regression, and discrimant analysis on data from 436 Chileans. All individual r2 values from simple regression were less than 0.05. For the best stepwise multiple regression program, R2 was only 0.09, indicating that 91% of the variability in malabsorption was "unexplained" by the five best predictor variables. Because of so much unexplained variability, the authors could detect (using multiple regression) only 56 of 90 (62%) malabsorbers and only 14 of 38 (37%) absorbers. In conclusion, for their Chilean populations the authors poorly predicted malabsorption from symptoms.

Adolescent↗