Steinfeld syndrome: Report of a second family and further delineation of a rare autosomal dominant disorder

We report on a fetus with alobar holoprosencephaly, microphthalmia, midline cleft lip and palate, absent nose, dysplastic ears, radial defects, pentalogy of Fallot, unilateral renal aplasia, absent gallbladder, vertebral anomalies, and absence of ribs. The father had a cleft palate, bilateral colobomas of the iris and retina, a bifid uvula, vertebral anomalies, and unilateral congential hearing loss. His sister had a cleft lip. On the basis of this family and the family reported by Steinfeld [1982], this malformation syndrome can be defined as a rare autosomal dominant syndrome whose main component manifestations are holoprosencephaly, predominantly radial limb deficiency, heart defects, kidney malformations, absence of gallbladder, and vertebral anomalies. © 1993 Wiley-Liss, Inc.     

Case report: a novel surgical approach to obstructed hemiuterus: sonographically guided hysteroscopic correction

Unilateral obstruction of a duplicate uterus is very rare. The current recommendation for its correction involves transmural incision of the uterine muscle. A method is presented here that was successfully applied in one patient suffering from this anomaly, using sonographically guided hysteroscopy. This method obviated the need for an extensive operation.     

Expanding the phenotypic spectrum of Mabry Syndrome with novel PIGO gene variants associated with hyperphosphatasia,intractable epilepsy,and complex gastrointestinal and urogenital malformations

Mabry syndrome is a glycophosphatidylinositol (GPI) deficiency characterized by intellectual disability, distinctive facial features, intractable seizures, and hyperphosphatasia. We expand the phenotypic spectrum of inherited GPI deficiencies with novel bi-allelic phosphatidylinositol glycan anchor biosynthesis class O (PIGO) variants in a neonate who presented with intractable epilepsy and complex gastrointestinal and urogenital malformations.     

Optic pit syndrome

In a study of 15 eyes with optic pits fluorescein angiography revealed that only pits associated with serous detachment of the macular retina showed fluorescence in the late venous phase, while the pits uncomplicated by detachment remained hypofluorescent throughout the test. This finding strongly supports the hypothesis that the subretinal fluid producing the macular detachment originates from leakage of vessels located in the floor of the pit. In addition a high incidence of anomalies was found to be associated with optic pits. Therefore the author suggests to call the association between optic pit and large optic disc, parapapillary chorioretinal changes, cilioretinal vessels, situs inversus and eventual other vessel abnormalities, the optic pit syndrome.     

130例遗传咨询者细胞遗传学分析

目的:探讨核型分析对染色体病的诊断价值,及染色体多态变异与异常妊娠及原发不育的关系。方法:对130例遗传咨询者进行常规外周血淋巴细胞培养,并对异常核型及染色体多态变异进行分析。结果:发现异常核型15例,异常核型检出率为11.54%。其中常染色体数目异常9例,结构异常4例,性染色体数目异常2例。发现染色体多态变异8例。结论:染色体异常是自然流产、死胎及儿童智能低下的重要原因,应引起临床医学工作者的高度重视。     

Clinical and cytogenetic aspects of X-chromosome deletions

Karyotype/phenotype correlations in six non-mosaic patients with dysgenetic ovaries and partial deletions of the X-chromosome (three patients with short arm, and three with long arm deletions) are presented and the pertinent literature is analysed. It would appear that functioning ovarian tissue is present more often in patients with a short arm deletion than in those with a deleted long arm. This may represent a difference in the strength of two sets of controlling factors, but it can also be related to break point position. This in turn may be misinterpreted due to the difficulty in distinguishing between terminal and interstitial deletions in the long arm. Stature may be a heterochromatic effect, but if specific genetic factors influencing stature exist, then they would appear to be situated mostly on the short arm of the X-chromosome, although some 'statural determinants' occur also on the long arm and could be located rather close to the centromere. Deletions of the short arm of the X-chromosome were almost always associated with some features of the Turner phenotype, and could possibly be related to a gene dosage effect.     

New syndrome: Mother and son with hypertelorism,downslanting palpebral fissures,malar hypoplasia,and apparently low-set ears associated with joint and scrotal anomalies

We report on a mother and son with a similar syndrome of hypertelorism and telecanthus, epicanthal folds, downslanting palpebral fissures, ptosis, broad nasal bridge, malar hypoplasia, thin upper lip, smooth philtrum, and apparently low-set prominent ears. The son also has a hypoplastic shawl scrotum, cryptorchidism, and genu valgum. His language development was delayed at 18 months, but subsequently improved and was normal at age 3. The mother has the additional findings of marked cubitus valgus, hyperextensible joints, dull normal intelligence and a bleeding diathesis. This pattern of multiple congenital anomalies may represent a new syndrome.     

Associated anomalies in Pierre Robin sequence

Pierre Robin sequence (PRS) is frequently co-occurring with other non-PRS congenital anomalies. The types and the prevalence of anomalies co-occurring with PRS vary in the reported studies. The aims of this report was to study the types and the prevalence of the anomalies co-occurring with PRS in a well-studied population northeastern France. The types and the prevalence of anomalies co-occurring in cases with PRS were ascertained in all terminations of pregnancy, stillbirths and live births in 387,067 births occurring consecutively during the period 1979–2007 in the area covered by our registry of congenital anomalies which is population-based, 89 cases of PRS were registered during the study period with a prevalence of 2.29 per 10,000 births, 69.7% of the cases had associated non-PRS anomalies. Chromosomal abnormalities were present in 10 (11.2%) cases including three 22 q11.2 deletion. Non-chromosomal recognizable conditions were diagnosed in 27 cases (30.3%) including 10 Stickler syndrome, 8 Treacher Collins syndrome, 3 cases with short stature and 6 other syndromes. Multiple congenital anomalies (MCA) were present in 25 cases (28.1%). The most frequent MCA were in the ear, face and neck (35 out of 98 anomalies, 35.7%), cardiovascular (18 anomalies, 18.4%), musculoskeletal (11 anomalies, 11.2%), central nervous (7 anomalies, 7.1%), urinary (6 anomalies, 6.1%), and eye (6 anomalies, 6.1%) system. The high prevalence of associated anomalies justifies a thorough screening for other congenital anomalies in cases with PRS.