We report making the prenatal diagnosis of thanatophoric dysplasia without "cloverleaf" skull at 21 weeks gestation. The ultrasound examination showed short and bowed limbs, narrow thorax, and large head. Radiological and histological studies confirmed the aborted fetus to be affected with thanatophoric dysplasia. The differential prenatal diagnosis with other skeletal dysplasias is discussed.

Adult↗

PubMedDate not supplied

[OEIS complex. Description of a case associated with cardiopathy].

We describe a newborn affected by OEIS complex (Omphalocele--Exstrophy of bladder--Imperforate anus--Spinal defect) associated with atrial septal defect. Terminal ileostomy, closure of the abdominal wall defect and suture of the cecal and vesical plates were performed. The patient died at 5 months and four days.

Abnormalities, Multiple↗

PubMedDate not supplied

[Spondylo-epiphyseal dysplasia tarda with progressive arthropathy: description of a patient whose mother showed minimal features of the disease].

An 8-year-old male patient with Spondylo-Epiphyseal Tarda with Progressive Arthropathy (SEDT-PA) or Progressive Pseudo-rheumatoid Arthropathy of Childhood is reported. Abnormal gait, fatigability, and joint symptoms began at 3 years. Radiological changes were: generalized osteoporosis, platyspondyly, and enlarged epiphyses. The patient's mother showed reduced muscular massa, joint swelling, moderate osteoporosis, and normal vertebrae. SEDT-PA has an autosomal recessive mode of inheritance. In this case, as the propositus' mother showed minimal signs of the disease, either an X-linked trait or an autosomal dominant mutation with variable expressivity could also be assumed.

Child↗

PubMedDate not supplied

[Gingival "thickening" in malformation syndromes. I].

The etiology of generalized gingival enlargement is very heterogeneous. Pregnancy, drugs, systemic diseases, poor oral hygiene, and nutritional impairment can lead to gingival enlargement. This defect can also be presented in several malformation syndromes. Gingival fibromatosis, that may exist as an isolated abnormality or as part of a syndrome, is another condition with gingival enlargement. In this paper, the malformation syndromes with gingival hypertrophy and those with gingival fibromatosis are listed in tables.

Congenital Abnormalities↗

PubMedDate not supplied

[Gingival hypertrophy in I-cell disease (mucolipidosis II). A report of 2 nonfamilial cases. II].

Two nonconsanguineous patients affected by I-cell disease (mucolipidosis II) are reported. I-cell disease, an oligosaccharidosis, is characterized by severe psychomotor retardation, marked shortness of stature, coarse facies, gingival enlargement, generalized bone demineralization, periosteal cloaking of long bones visible in early infancy, a rapid deteriorating course, and death from heart failure or bronchopneumonia, usually by the age of 5 years. This disorder is the result of a deficiency of glycoprotein N-acetylglucosaminylphosphotransferase activity, necessary for proper intracellular processing of lysosomal enzymes. Inheritance is autosomal recessive. It received the name I-cell disease because of several granular inclusions in the cytoplasm of cultured fibroblasts and amniotic fluid cells observed under phase contrast microscopy. These granules represent altered lysosomes. The two patients, reported here, had a very marked gingival hypertrophy and, for this reason, were referred to the Oral Pathology Service of Galliera Hospital. A gingivectomy was performed on patient 2 to improve the mastication, but few months later gingival hypertrophy reappeared.

Child, Preschool↗