Cleft lip and/or palate in two cases of 46,X,i(Xq) Turner syndrome.

Cleft lip (CL) and/or palate (CP) are uncommon anomalies in Turner syndrome (TS) series. We report two unrelated sporadic 46,X,i(Xq) patients exhibiting orofacial clefts and a peculiar facial appearance masking the clinical diagnosis. CL, and CP in case 1 and CP in case 2, though non-specific of TS, may not be fortuitous findings. The increased frequency of CP and bifid uvula in poly X syndromes, the dermatoglyphic similarities between iXq TS and X polysomies, and the occurrence of Klinefelter phenotype when extra Xq material is present in a male, are all indirect evidences suggesting that Xq material cannot be considered phenotipically inert and facial clefts found in our patients may be syndromal manifestation of trisomic Xq dosage.

Report and review of the fetal brain disruption sequence.

UNLABELLED: The fetal brain disruption sequence (FBDS), a rare cause of extreme microcephaly, is described in a patient and compared with 19 previously reported cases. Clinical findings present in almost all patients included: severe microcephaly (average occipitofrontal circumference -5.8 SD), overlapping sutures, prominent occipital bone, scalp rugae with normal hair patterning and marked neurological impairment. Early death occurred in 7/20 cases. The FBDS was sporadic in 17 out of 19 reported cases supporting a low recurrence risk for genetic counselling purposes. A group of related observations in cases were thromboembolic phenomenon following death of the co-twin, vascular and/or haematological involvement by prenatal cytomegalovirus infection, prenatal cocaine exposure, direct vascular fetal trauma (cordocentesis) and fetal vascular changes after a maternal car accident causing intracranial bleeding and brain damage. Normal scalp hair pattern in all cases and the second or third trimester location of the disruptive event in two cases suggest that in the FBDS, brain growth is normal throughout the first 18 weeks of gestation at least. CONCLUSION: Pathogenic factors suggest that different forms of vascular injury to the fetal brain (emboli, haemorrhage, vasoconstriction, disseminated intravascular coagulation) can produce partial brain destruction, diminished intracranial pression and skull collapse in the fetal brain disruption sequence.

Holoprosencephaly, hypertelorism, and ectrodactyly in a boy with an apparently balanced de novo t(2;4) (q14.2;q35).

A holoprosencephaly, hypertelorism, and ectrodactyly syndrome (HHES) was described in three previous cases in whom chromosomes were apparently normal. We report on a 3-year-old boy with HHES and a de novo apparently balanced t(2;4)(q14.2;q35) confirmed by fluorescent in situ hybridization. He had severe growth and mental retardation, lobar holoprosencephaly, hypertelorism, microphthalmos, and iris, choroid, and retina colobomata. Less-severe facial involvement correlates with the semilobar type of holoprosencephaly; limb defects consisted of foot ectrodactyly and syndactyly. All previous HHES cases were sporadic and of unknown cause. A cryptic imbalance secondary to the translocation (2;4) in our patient may explain the phenotype.

Corroboration of the lower extremity counterpart of the Poland sequence.

Gluteal and lower extremity hypoplasia with ipsilateral toe brachysyndactyly were noted in a 23-year-old woman similarly affected to the only previously reported case of the lower extremity counterpart of Poland sequence. Since no neurological deficit was found, and electromyographic and nerve conduction studies in the affected limb were normal, we propose a vascular origin which would involve the external iliac artery supply analogous to the subclavian artery supply disruption in the upper extremity Poland sequence.

Unusual presentation of heteropagus attached to the thorax.

The endoparasitic twin is the most common form of asymmetric fetal duplication (heteropagus). A 2-month-old girl who had a parasitic right lower limb with axial skeleton, vertebral column, uterus, fallopian tube, ovary, and bladder implanted in the sternum region is described as another example of exoparasitic twin, the uncommon form of heteropagus. Unusually, dextrocardia was found in the autosite. This report emphasizes the even progression between the endoparasitic and exoparasitic forms of heteropagus.

The Wiedemann-Beckwith syndrome in four sibs including one with associated congenital hypothyroidism.

Two boys and two girls from a sibship of six, affected with the Wiedemann-Beckwith syndrome (WBS), are reported. One of the patients also had congenital hypothyroidism, an association hitherto undescribed and possibly fortuitous. Neither stigmata of WBS in other family members nor parental consanguinity were found, indicating a possible autosomal dominant inheritance comprising either a delayed mutation of an unstable premutated gene or non-penetrance.

Factores prenatales y defectos congenitos en una poblacion de 7,791 recien nacidos consecutivos. / Prenatal factors and congenital defects in a population of 7,791 consecutive mewborn infants

El presente trabajo comprendido dentro del proyecto general reconocible bajo el acrostico DENOPREDEC que significa deteccion, nosonomia y prevencion de detectos congenitos, analiza la interralacion entre un grupo seleccionado de factores prenatales y defectos congenitos (DC). En 7,791 recien nacidos vivos consecutivos de un hospital de ginecobstetricia del IMSS, se observaron 100 DC (12.8 por 1,000), incidencia similar a otras descritas previamente en la literatura. Las variables analizadas comparativamente entre el grupo de DC y un grupo testigo, no mostraron diferencias significativas en lo que respecta a sexo, edad parenteral, consanguinidad paridad, DC previos en la familia, antecedentes de factores fisicos, quimicos y enfermedad cronica. Se observaron diferencias significativas entre ambos grupos en los antecedentes de parto distocico y de enfermedad aguda, especificamente viral lo que permite definir grupos de riesgos y proponer medidas practicas para un mejor asesoramiento genetico en DC

Sindrome de Holt: una malformacion acral heterogenea autosomica dominante. / Holt's syndrome : dominant autosomic heterogeneous acral malformation

Se describe una familia que presento en un progenitor braquidactilia tipo "E" y en una hija polidactilia postaxial tipo "A".Esta observacion confirma una disostosis autosomica dominante heterogenea caracterizada por braquidactilia polisindactilia, descrita por Holt, cuyo nombre se propone para designar el sindrome

Further clinical and radiological features in metaphyseal chondrodysplasia Jansen type.

A case of metaphyseal chondrodysplasia Jansen Type is reported. Clinical and radiological features of this case are presented, and are compared with the 12 cases of this syndrome that have been previously reported.

Post-pubertal female psychosexual orientation in incomplete male pseudohermaphroditism type 2 (5 alpha-reductase deficiency).

An 18 year-old 46,XY female-reared patient with incomplete male pseudohermaphroditism type 2 (5 alpha-reductase deficiency) was studied. She had a male habitus, Wolffian ducts derivatives, normal testes and small phallus; there were no Mullerian duct derivatives nor gynaecomastia. Clinical and genetic data were typical of the diagnosis which was corroborated by endocrinological studies. Normal LH, FSH, testosterone (T) and oestradiol and decreased dihydrotestosterone (DHT) plasma levels before and after hCG administration were found; the T:DHT ratio was highly increased. The histopathological studies of a testis biopsy showed a normal adult male pattern, and the meiotic chromosomes were interpreted as normal. After assessment of her psychosexual orientation, successful surgical and medical therapy to maintain and improve her femaleness was effectuated. The post-pubertal gender role switch commonly observed in these female-reared patients is discussed.

De novo partial trisomy of chromosome 18(pter yields q11:). Some observations on the phenotype mapping of chromosome 18 imbalances.

An infant with a partial trisomy 18(pter yields q11:) is described. The patient's phenotype consists of many features of complete trisomy 18. The findings are compared with those from similar cases reported in the literature permitting to conclude that 18q121-q122 segment is the "critical" zone which when trisomic, causes the severe stigmata (inner organ malformations and early death) of the complete trisomy 18.