[Low cholesterol and pathological manifestations: Smith-Lemli-Opitz syndrome].
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Abnormalities, Multiple↗
Biomedical subjects
P Franceschini
Publications and source records attributed to P Franceschini.
Rigid mask-like face, ear anomalies, deafness, preaxial polydactyly and toe malformations in a patient with normal intelligence: a new entity?
We describe a patient with deafness, normal intellect and a unique phenotype characterized by a rigid mask-like face, narrow, upslanting palpebral fissures, flat malar bones, thick lower lip, malformed auricles, preaxial polydactyly with triphalangeal thumbs, syn-ectrodactyly of toes and first degree hypospadias.
Abnormalities, Multiple↗
Low-risk endometrial hyperplasia: hysteroscopy and histologic evaluation after treatment with LH-RH analogue.
Endometrial hyperplasia is an endometrial pathologic condition often found at perimenopausal age. Abnormal uterine bleeding (A.U.B.) is the most frequent symptom of endometrial hyperplasia. The combination of hysteroscopy and endometrial biopsy is the most suitable approach for the diagnosis of endometrial hyperplasia in symptomatic patients. We have studied endometrial modifications due to LHRH-analogue in 75 patients with AUB and with a hysteroscopic and histologic picture of low-risk endometrial hyperplasia. LHRH analogue is a valid treatment for all estrogen induced pathologies, because of its suppressive action on hypothalamic-hypophysary gonadotropins. The administration of LHRH for 4 months induced an improvement of the menstrual cycle within the first month of treatment in 53.3% of cases. At the end of treatment 100% of the patients were in amenorrhea. The hysteroscopic follow-up at 3 months showed an endometrial thinning with a tendency to hypoatrophy of the mucosa in 72% of cases. Three months after the end of treatment 20 patient had regular menstrual cycles and hysteroscopic and a histologic picture of normal endometrium. Only 30 patients had persistent amenorrhea with a consequent hysteroscopic and histologic picture of endometrial hypoatrophy. The use of LHRH analogue seems to have a great impact on the management of estrogen-dependent gynaecological benign diseases.
Adult↗
Lower lip pits and complete idiopathic precocious puberty in a patient with Kabuki make-up (Niikawa-Kuroki) syndrome.
We report on a 13 1/2-year-old patient with Kabuki make-up syndrome and complete idiopathic precocious puberty manifested at 7 1/2 years. In addition to the other specific clinical signs, she showed hypodontia and lower lip pits, as typically seen in the Van der Woude syndrome. The significance of lower lip pits in the Kabuki make-up syndrome is discussed.
Abnormalities, Multiple↗
Possible relationship between ulnar-mammary syndrome and split hand with aplasia of the ulna syndrome.
We describe a 3-generation family in which mother, maternal grandfather, and 2 (male and female) children have variably manifestations of the ulnar-mammary syndrome, including ulnar ray defects, obesity, hypogenitalism, delayed puberty, hypoplasia of nipples and apocrine glands, and a previously undescribed ectopia of upper canines. The index patient also had split-hand appearance on the right due to complete absence of the 4th ray. To our knowledge this is the first documented example of split hand in the ulnar-mammary syndrome. The hand anomaly raises the question of a possible causal relationship between ulnar-mammary syndrome and the split hand with aplasia of the ulna syndrome, as already hypothesized by Lenz [1980].
Abnormalities, Multiple↗
Kenny-Caffey syndrome in two sibs born to consanguineous parents: evidence for an autosomal recessive variant.
We report on 2 sibs with manifestations of the Kenny-Caffey syndrome born to normal, consanguineous parents. Clinical manifestations included dwarfism, internal cortical thickening and medullary stenosis of tubular bones, poorly ossified skull bones, and hypocalcemia. The younger of the two died during a tonic convulsion. The older had neonatal hypoparathyroidism and is now a short intelligent, 1-year-old child. This family gives new support to the existence of an autosomal recessive variant of the syndrome.
Abnormalities, Multiple↗
[Myomectomy via hysteroscopy. Indications, technics, results].
Nowadays operative hysteroscopy represents the elective treatment of submucous and partially intramural fibroids. Seventy patients underwent hysteroscopic resection of fibroids, because of abnormal uterine bleeding in 58 (82.8%) cases, and infertility in 12 (17.2%) cases. The evaluation of the lesion was performed by diagnostic hysteroscopy and abdominal (57 patients) or transvaginal (13 patients) ultrasounds. In particular, for the evaluation of the intramural portion of the lesion, the hysteroscopic study of the angle between fibroid and myometrium was fundamental: the more acute the angle is the more intracavitary the myoma is. Forty-six (65.7%) out of 70 had a completely intracavitary fibroid; in 14 (20%) cases the intramural development was less than 1.5 cm and in the remaining 10 (14.3%) cases was more than 1.5 cm. Integration of hysteroscopy and ultrasounds for the assessment of myomas and the preoperative preparation by LH-RH analogues allow to perform an endoscopic resection of myomas which has up to, and sometimes over, 50% of their volume in the uterine wall.
Female↗
[Diagnostic and therapeutic aspects of endometrial polyps].
The diagnostic and therapeutic utility of hysteroscopy in intracavity uterine pathologies is now widely recognised. The Authors have evaluated the efficacy of hysteroscopy in 640 patients in a study of endometrial polyps for which the endoscopic technique represents the elective form of therapy, avoiding excessive trauma to the patient and preserving the endometrial mucosa intact. The results obtained are fully discussed. Hysteroscopic resection of polyps was carried out in 49 patients in a day-hospital setting and without further complications.
Adult↗
[Colpo-cyto-histological correlations in intraepithelial lesions of the uterine cervix].
The aim of this study was to assess the clinical efficiency of colposcopic findings as diagnostic tests for intraepithelial lesion using the analysis of colpo-cyto-histological correlations. The results of 3340 colposcopic tests performed in the Colposcopy Unit of the Second Clinic of Obstetrics and Gynecology between March 1990 and May 1991 were analysed, taking into account 326 (9.7%) cases of Abnormal Transformation Zone (ANTZ). The colpo-histological correlation in ANTZ 1 cases (52 cases of white epithelium, 92 standard mosaic, 42 standard dotted and 61 mixed cases) was 65.2% (52.3%) for HPV; 12.9% for CIN). The colpo-histological correlation in ANTZ 2 cases (30 cases of thickened white epithelium, 5 irregular mosaic, 4 irregular dotted, 2 atypical vessels, 4 thickened gland outlets and 6 mixed cases) was 70.5% (43.3% for HPV; 27.2% for CIN an and Ca). In this retrospective study colposcopy showed a diagnostic accuracy of 64.6% in the cases examined and played a decisive role in the diagnosis of intraepithelial lesions of the uterine cervix.
Colposcopy↗
HIV-1 seroprevalence in patients presenting with sexually transmitted disease (STD): results from six Parisian STD clinics.
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Enzyme-Linked Immunosorbent Assay↗
X/Y translocation in a family with X-linked ichthyosis, chondrodysplasia punctata, and mental retardation: DNA analysis reveals deletion of the steroid sulphatase gene and translocation of its Y pseudogene.
We describe a family with two male members showing an X/Y translocation (karyotype: 46,Y,der(X)t(X;Y)(p22;q11]. At physical examination both patients showed ichthyosis, mental retardation and dysmorphic features. Chondrodysplasia punctata and short stature were present in one case. Direct DNA analysis, using a steroid sulphatase cDNA probe, was performed in one patient, his mother and sister, both carriers of the translocation. We found that the translocated region of the Y chromosome includes the steroid sulphatase pseudogene. These results suggest that in our patients the X/Y translocation may be derived from a recombinational event between homologous regions located on the short arm of the X chromosome and the long arm of the Y chromosome. Clinical and molecular studies on the present family add further information for the construction of a tentative physical map of the distal Xp.
Child↗
Partial deletion of the short arm of chromosome 20: 46,XX,del(20)(p11)/46,XX mosaicism.
A 46,XX/46,XX,del(20)(p11) mosaicism was identified in a 10-month-old female infant with multiple congenital anomalies, development retardation and failure to thrive. The 20p partial deletion was observed in 50% of the cells examined. Both parents had normal phenotype and karyotype. Only four other patients with partial 20p deletion are known and they are not mosaics. Their clinical findings are similar to those of our patient; in particular, they share anomalies of the vertebral column such as segmentation errors and "butterfly-shaped" vertebrae.
Chromosome Deletion↗
A new syndrome with ocular, skeletal and renal involvement.
A patient with retinitis pigmentosa, hypertension with interstitial nephropathy, short limb dwarfism with Madelung deformity of the forearms and an unclassified type of brachydactyly is described. Such bone dysplasia has never been reported to date either as a single entity or associated with renal and retinal diseases.
Abnormalities, Multiple↗
Triphalangeal thumb and brachy-ectrodactyly syndrome. Confirmation of autosomal dominant inheritance.
Two patients with triphalangeal thumbs-ectrodactyly syndrome are described. The first case is a 4-year-old female with triphalangeal thumbs, preaxial polydactyly with rudimentary polydactyly of the 3rd finger of the right hand and ectro-syndactyly of feet. Her stillborn sister had triphalangeal thumbs and ectrodactyly of feet. The mother has triphalangeal thumbs, brachy-syndactyly of the left foot and ectro-syndactyly of the right one. The maternal grandmother has syndactyly of 1st, 2nd, 3rd toes and hypoplasia of the 3rd toe on the right foot. The second case is sporadic and shows triphalangeal thumbs, preaxial polydactyly of the right hand and bilateral lobster-claw feet. Our observations confirm the variability of clinical expression and support the autosomal dominant inheritance of the syndrome.
Abnormalities, Multiple↗
Oro-facial-digital syndrome II. Transitional type between the Mohr and the Majewski syndromes: report of two new cases.
Two patients with the oro-facial-digital syndrome II or Mohr syndrome presented laryngeal anomalies and hallucal and postaxial polysyndactyly of the feet. Those rare malformations are typically observed in patients with the Majewski syndrome, a lethal, short rib-polydactyly skeletal dysplasia with orofacial findings almost identical to those of the Mohr syndrome. Phenotypic overlap between the Mohr and the Majewski syndromes has already been reported in the literature, and it has been suggested that the two syndromes may be mild and severe expressions of the same autosomal recessive disorder. Our two cases give further support to this hypothesis.
Abnormalities, Multiple↗
Postmortem Menkes diagnosis from carrier testing of female relatives.
A boy who died at 6 months of age was noted to have sparse, stubby and light hair, pili torti were observed microscopically, and his skin was dry and redundant. As a suspicion of Menkes disease was first raised after his death, serum copper and ceruloplasmin in serum were not measured. Unfortunately, no fibroblasts were available - only fixed and paraffin-embedded samples of brain, spleen and liver. The copper contents of the brain and the liver were lower than in an age-matched control. Fibroblast cultures from the mother, the maternal grandmother, and a maternal aunt of the index patient were analysed for 64Cu-uptake. All these females showed the uptake values expected for Menkes carriers, thus supporting the clinical suspicion of Menkes disease in the index patient. From the above-mentioned results it was highly likely that the index patient had suffered from Menkes disease. Adequate genetic counseling could thus be offered to the family, and in the next pregnancy a first trimester prenatal diagnosis was performed.
Brain Chemistry↗
[A case of angiolymphoid hyperplasia with eosinophilia (HALE) with mucosal onset].
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Adult↗
The Coffin-Siris syndrome in two siblings.
Two sisters with Coffin-Siris syndrome, born to healthy unrelated parents, are reported. The accurate X-ray evaluation of the two patients allows the identification of some new features and a better delineation of the radiological phenotype. Our two cases confirm the proposed autosomal recessive inheritance of the syndrome.
Adult↗