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At least 469 records · Page 26Linked to original sources
PubMed1996

Ablepharon macrostomia syndrome with associated cutis laxa: possible localization to 18q.

The ablepharon-macrostomia (AMS) and Barber-Say syndromes (BSS) are rare disorders characterized by absence of the eyelids or ectropion, macrostomia, ambiguous genitalia, abnormal ears, rudimentary nipples, and dry, redundant skin. Patients with Barber-Say syndrome also have hypertrichosis. We present a patient with a phenotype similar to AMS who has a complex rearrangement of chromosome 18, involving both an inversion and interstitial deletion. Our patient lacks the typical features of the 18q deletion syndrome. We review AMS and BSS as compared with our patient, and recognize cutis laxa as a feature shared by all. We propose that the gene(s) for this phenotype may lie on chromosome 18 in the region of the deletion or inversion breakpoints.

Abnormalities, Multiple↗
PubMed1997

Transient bradycardia in a mouse model for the oromandibulofacial limb hypogenesis syndrome following chorionic villus sampling.

Amniotic sac puncture carried out on day 13 mouse embryos induces a high incidence of craniofacial and limb abnormalities that resemble the anomalies seen in the oromandibulofacial limb hypogenesis syndrome occasionally encountered following chorionic villus sampling carried out during early human pregnancy. It has been hypothesized that this syndrome probably has a vascular basis, possibly due to hypotension and hypoperfusion of tissues secondary to placental trauma, though no detailed aetiology has so far been described. We have determined embryonic heart rates in control embryos, in embryos at intervals following anaesthesia, and following amniotic sac puncture. An increased duration of bradycardia is seen following this procedure which is not observed in anaesthetic-only controls and in embryos in the contralateral (non-operated) uterine horns. We discuss why the incidence of oromandibulofacial limb hypogenesis syndrome is low following chorionic villus sampling, and propose a possible aetiology for the limb abnormalities seen in this condition.

Abnormalities, Multiple↗
PubMed1999

Sonographic features of fetal trisomy 18 at 13 and 14 weeks: four case reports.

Fetal trisomy 18 is the second most common multiple malformation syndrome. We present four cases of trisomy 18 with multiple sonographic abnormalities at 13 and 14 weeks of gestation. These cases demonstrated that fetal hand deformities can be a tell-tale sign of trisomy 18 with or without increased nuchal translucency at this gestation.

Abnormalities, Multiple↗
PubMed2000

Popliteal pterygium syndrome in a Swedish family--clinical findings and genetic analysis with the van der Woude syndrome locus at 1q32-q41.

The present study describes a Swedish family in which the mother and her son were affected with signs of popliteal pterygium syndrome (PPS, OMIM 119500). Both individuals had bilateral complete cleft lip and palate, oral synechiae, paramedian pits on the lower lip, toe syndactyly and a piece of triangular skin overgrowth on the great toes. The son also presented with soft tissue syndactyly of the 2nd and 3rd fingers. Although popliteal pterygium was not found, the above clinical features were diagnostic for PPS. Chromosomal abnormalities were not revealed in either case by cytogenetic analyses. A test for microdeletion in the VWS region at 1q32-q41 was performed in the family using 5 polymorphic microsatellite markers from the region. The affected son was found to be heterozygous for all 5 markers, suggesting that microdeletion at the VWS region was unlikely. The VWS locus, however, was not excluded by haplotype analysis of the family.

Abnormalities, Multiple↗
PubMed1991

Congenital conductive or mixed deafness, preauricular sinus, external ear anomaly, and commissural lip pits: an autosomal dominant inherited syndrome.

Branchiogenic syndromes such as branchio-oto-renal syndrome, Treacher Collins syndrome, and hemifacial microsomia are well delineated. From a clinical study in a large family spanning three generations, it can be concluded that the association of conductive deafness, commissural lip pits, preauricular sinuses, and external ear anomalies can be differentiated from the above-mentioned syndromes and is a separate autosomal dominant syndrome.

Abnormalities, Multiple↗
PubMed1971

Nosologic and genetic considerations in the aglossy-adactyly syndrome.

A case of the aglossy-adactyly syndrome with a variety of associated anomalies and mental retardation suggests that the disorder may be a more complex dysmorphogenetic syndrome than is currently recognized. It is suggested that at least one and possibly two other conditions presently regarded as nosologically distinct from the aglossy-adactyly syndrome may, in fact, represent the same formal genesis syndrome. Because of the rarity of the condition, the failure to search for minor anomalies in first degree relatives and the lack of careful family histories in most cases, our present understanding of this syndrome is limited although etiologic heterogeneity seems likely.

Abnormalities, Multiple↗
PubMed1992

The 11q- syndrome with mosaic partial deletion of 11q.

A female child with mosaic partial deletion of 11q is reported. At 1 month of age she was presented with cogenital glaucoma, trigonocephaly and multiple minor anomalies. She exhibited growth retardation and the typical phenotype of 11q- syndrome. G-banding analysis failed to show any abnormality, although subsequent high resolution banding revealed the abnormal karyotype 46,XX,del(11)(q23.3 q24.2)/46,XX,del(11)(q23.3 q25). This case is a second case of mosaic 11q- syndrome and her karyotype suggests that the region of 11q23.3-11q24.2 is critical in 11q-syndrome. Congenital glaucoma has never been reported as a complication of 11q- syndrome.

Abnormalities, Multiple↗
PubMed2006

Folate intake and the primary prevention of non-neural birth defects.

OBJECTIVES: To investigate whether maternal periconceptional folate intake is associated with a reduction in selected non-neural birth defects in Western Australia (WA). METHODS: Case-control study of folate intake in women whose infants had orofacial clefts (62); congenital heart defects (151); urinary tract defects (117); limb reduction defects (26); or other major birth defects (119); and 578 control women. RESULTS: Neither folic acid supplements nor dietary folate intake in women not using supplements was significantly associated with a reduction in risk in any of the case groups. In contrast to neural tube defects, WA population data for orofacial clefts, heart defects, limb reduction defects and urinary tract defects showed no fall in prevalence since the introduction of folate promotion and voluntary food fortification. CONCLUSIONS: This study provides no evidence of folate being an important factor in the prevention of birth defects other than neural tube defects.

Case-Control Studies↗
PubMedDate not supplied

Facial paralysis in children: differential diagnosis.

The differential diagnosis in 170 patients between birth and 18 years of age is reviewed. There are a number of obvious physical findings and historical features that allow one to make a diagnosis rather quickly. Pain, vesicles, a red pinna, vertigo, and sensorineural hearing loss suggest herpes zoster oticus. Slow progression beyond three weeks, recurrent facial paralysis involving the same side, facial twitching, weakness, or no return of function after six months indicate a neoplasm. Bilateral simultaneous facial paralysis indicates a cause other than Bell's palsy, such as Guillain-Barré syndrome, pseudobulbar palsy, sarcoidosis, and leukemia. Recurrent facial paralysis associated with a fissured tongue, facial edema, and a positive family history should suggest Melkersson-Rosenthal syndrome.

Abnormalities, Multiple↗