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At least 1,351 records · Page 75Linked to original sources
PubMed2003

Child with overgrowth, pigmentary streaks, polydactyly, and intestinal lymphangiectasia: macrocephaly-cutis marmorata telangiectatica congenita syndrome or new disorder?

We report a male patient with increased birth weight and growth, cutis marmorata, macrocephaly, large hands and feet, thick subcutaneous tissues, postaxial polydactyly, linear skin hyperpigmentation following the lines of Blaschko, and intestinal lymphangiectasia. Although the findings resemble the recently defined macrocephaly cutis marmorata syndrome, some findings suggest that this might be a new disorder. Differential diagnosis are discussed, with a review of the literature.

Abnormalities, Multiple↗
PubMed2003

Splenogonadal fusion-limb defect "syndrome" and associated malformations.

Two types of splenogonadal fusion (SGF) have been proposed. In the continuous type the spleen is connected to the gonad, and often it is associated with limb defects and other anomalies such as micrognathia, microglossia, anal atresia, and hypoplastic lungs. Associated abnormalities are lower in the discontinuous type of SGF, where there is fusion between the gonad and accessory splenic tissue, without connection with the normal spleen. The cause of SGF and SGF with limb defects (SGFLD) is unknown. On the basis of associated orofacial limb abnormalities, some authors have suggested that SGFLD may be related to the Hanhart complex. Others have noted the overlap between SGFLD and femoral-facial syndrome (FFS). We consider SGFLD a developmental field defect that originates during blastogenesis. Although the cause is unknown, the earlier its action, the more severe the involvement resulting in SGFLD; later action may result only in SGF.

Abnormalities, Multiple↗
PubMed2004

Three new families with arterial tortuosity syndrome.

Arterial tortuosity syndrome (ATS) is a rare condition with autosomal recessive inheritance characterized by connective tissue abnormalities. The most specific clinical findings are cardiovascular anomalies including tortuosity, lengthening, aneurysm, and stenosis formation of major arteries. Also ventricular hypertrophy is frequently present. Other anomalies are skin hyperextensibility and cutis laxa, joint laxity or contractures of the joints, and inguinal herniae. Histology shows disruption of elastic fibers of the media. These features suggest that ATS is a connective tissue disorder. A biochemical or molecular defect has not yet been identified. We describe here nine additional ATS patients from three consanguineous Moroccan families and review a total of 35 patients with this uncommon condition.

Abnormalities, Multiple↗
PubMed2005

Kabuki syndrome is not caused by an 8p duplication: a cytogenetic study in 20 patients.

Kabuki syndrome is characterized by a typical facial gestalt in combination with hypotonia and joint laxity, developmental delay, persistent fetal fingertip pads, and structural abnormalities mainly of the palate and the heart. Cytogenetic conditions may present with features of the syndrome. Recently, Milunsky and Huang [2003], reported an 8p duplication at chromosome 8p22-8p23.1 in 6 patients with Kabuki syndrome. We studied 20 individuals with Kabuki syndrome and were not able to confirm this finding. Kabuki syndrome remains a clinical diagnosis in the majority of cases.

Abnormalities, Multiple↗
PubMed2005

Unusual phenotype with progressive vertebral fusion in a girl with an apparently balanced t(10;20)(p11;p13) translocation.

We report the case of a girl presenting with an unusual form of multiple joint fusion. Skeletal abnormalities consisted of radioulnar synostosis and vertebral fusions without any carpal, digital or tarsal involvement, and broad ribs and clavicles. Spinal X-rays were available from age 4 to 21, demonstrating that the spinal involvement was progressive and led to a complete anterior and lateral fusion of vertebrae. A complete sequencing of the NOGGIN gene failed to find any mutation. In addition, this girl was carrier of an apparently balanced reciprocal translocation t(10;20)(p11;p13). We investigated the role of the BMP2A gene as a potential candidate gene. Fluorescence in situ hybridization with YAC probes from chromosome 20 showed that the BMP2A gene was not disrupted by the translocation breakpoint.

Abnormalities, Multiple↗
PubMed2007

Fraser and Ablepharon macrostomia phenotypes: concurrence in one family and association with mutated FRAS1.

To date, Fraser syndrome (FS) and Ablepharon macrostomia syndrome (AMS) have been considered distinct disorders, but they share strikingly similar patterns of congenital abnormalities, specifically craniofacial anomalies. While recent research has led to the identification of the genes FRAS1 and FREM2 as the cause of FS, the genetic basis of AMS continues to be enigmatic. We report on the concurrence of AMS-like and Fraser phenotypes in a Brazilian family. Both affected sibs were homozygous for a novel splice site mutation in the FRAS1 gene. Extensive studies on mRNA expression indicated that this mutation most likely leads to loss of function as most previously reported FRAS1 mutations associated with FS. We conclude that a phenotype resembling AMS is a rare clinical expression of FS with no obvious genotype-phenotype correlation. However, the molecular basis of "true" AMS which has been reported as a sporadic disorder in all cases but one, and so far with no relation to FS, is probably different and still needs to be further investigated.

Abnormalities, Multiple↗
PubMed1954

Prepenile scrotum.

Explore the source record for details and available documents.

Abnormalities, Multiple↗
PubMed1985

Teratogen update: clinical aspects of thalidomide embryopathy--a continuing preoccupation.

There is much misinformation in the medical community regarding the thalidomide syndrome. Some physicians and scientists are unaware of the fact that organs other than the limbs were frequently affected. Some believe that thalidomide could produce any type of limb reduction defect. Most were aware of the very narrow period of early organogenesis during which the thalidomide-type malformations could be produced. Important features include the fact that limb reduction defects were primarily preaxial, included concomitant girdle hypoplasia when limb reductions were severe, were almost universally bilateral and did not include distal transverse-type defects often called "hemimelia". While it can be said that some spontaneous (non-thalidomide) malformations can mimic the thalidomide syndrome, it can also be said that many limb reduction defects can be determined not to have been produced by thalidomide. The risks of the various defects can be estimated following exposure, with most certainty for limb defects, with less certainty for other defects. Many defects were not associated with exposure to thalidomide such as cleft lip and severe mental retardation.

Abdomen↗
PubMed1987

6.5-mm human embryo with a single nasal placode: cyclopia or hypotelorism?

A macroscopic study on the missing elements in cyclopia (a single eye or closely approximated eyes with all intergrades in a single orbit) with or without proboscis and hypotelorism was performed on 12 human fetuses and 2 human fetal skulls. In addition, microscopic investigations were carried out on the orbital contents of the cyclops with a single eye without proboscis, crown-heel length (C-HL) 37 cm, and on the 6.5-mm-crown-rump length (C-RL) human embryo with a single nasal placode localized in front of two eye cups. In the embryo and in all 14 fetal cases the midfacial region was more-or-less deficient. In the two cyclopia cases without proboscis the nasal placode(s) had not developed at all during the embryonic period. In cases with proboscis, consisting of a single tube localized above both eyes, and in the hypotelorismic specimens, there could only have been a single nasal placode during development: a situation evident in the 6.5-mm-C-RL human embryo. In this holoprosencephalic embryo the single nasal placode was undulated, as if formed from two fused nasal placodes, and flanked by the prospective areas for the lateral nasal processes. Caudally, it was bordered by the maxillary processes. In view of the position of the single placode in this embryonic face, as described above, it is most likely that this is a preliminary stage of hypotelorism. Moreover, both medial nasal processes with the internasal groove in between, i.e., the interplacodal area, were missing.(ABSTRACT TRUNCATED AT 250 WORDS)

Abnormalities, Multiple↗
PubMed1992

Maternal diabetes: the risk for specific birth defects.

We studied the risk for specific birth defects among infants of mothers with gestational and chronic diabetes using data collected by the Spanish Collaborative Study of Congenital Malformations (ECEMC). For the years 1976 to 1985, we identified 10,087 infants with malformations and 9,994 control infants; 155 of the case infants and 89 of the controls were born to diabetic mothers. The crude odds ratio for any minor or major defect and insulin-treated diabetes was 5.5 (95% CI = 1.2, 24.8), and for major malformations it was 8.7 (95% CI = 1.8, 34.7). The risk for defects involving the central nervous system (CNS), skeletal system and cardiovascular system were significantly increased. Infants of non-insulin-treated diabetic mothers were 2.9 times more likely to have a major congenital birth defect (95% CI = 1.2, 7.2). The crude odds ratio for any major or minor defect and mothers with gestational diabetes requiring insulin was 1.9 (95% CI = 1.1, 3.4). Similar risk was observed for major defects (OR = 1.9, 95% CI = 1.0, 3.7). These results suggest that infants of insulin-treated diabetic mothers have an increased risk of developing malformations of the CNS, cardiovascular system and skeletal system. We also found an increased risk for specific defect categories among infants of mothers with gestational diabetes treated with insulin.

Abnormalities, Multiple↗
PubMed1992

Diplophthalmia versus cyclopia and synophthalmia. Mechanisms of doubling of the eye.

In historical and many scientific papers of the 20th century double formation of eyes has been described as cyclopia, which develops as a variably marked fusion of both eye anlagen into a single eye in median position. In contrast with mythology, no cases were viable, as cyclopia is always accompanied by other severe deformities, such as cerebral defects and proboscis. For the first time a double eye on one side - a unilateral diplophthalmia - in a viable child born in Austria is presented after a reviewal of fundamentals of general and experimental embryology, cyclopia and unilateral synophthalmia. Unlike cases of cyclopia with two fused eyes from two anlagen in one single orbit, we found a total of three eyes from two anlagen in two orbits; a normally developed eye in the right orbit and a double eye in the left with no proboscis. In addition porencephaly, a double canine tooth, and a lateral branchial cyst were also present on the left side. An examination of this unique case partially corroberated the findings of experimental embryology as to the normal formation of the lens and brought to light new findings concerning the formation of the vitreous body and the retina, because in the 'extra' left eye a hyaloid artery did not develop. There was only one optic nerve with a normal optic disc as a guiding structure for this artery in the 'normal' left eye.

Abnormalities, Multiple↗
PubMed2000

Fraser-cryptophthalmos syndrome.

Fraser or Cryptophthalmos syndrome is a variable syndrome to the extent that cryptophthalmos might not be present in all cases. However, the main features are a "hidden eye", other craniofacial abnormalities, renal abnormalities, syndactyly and abnormal genitalia. It may be classified as isolated cryptophthalmos or cryptophthalmos sequence and cryptophthalmos syndrome. The cryptophthalmos syndrome has an autosomal recessive mode of inheritance. Isolated cryptophthalmos has been reported as an autosomal dominant trait. Prenatal diagnosis is possible using ultrasonography and fetoscopy. We report three cases of cryptophthalmos. One with renal agenesis had cryptophthalmos syndrome and the other two had isolated cryptophthalmos or cryptophthalmos sequence.

Abnormalities, Multiple↗