Síndrome de Adams-Oliver y complicaciones asociadas: reporte de una familia en Colombia y revisión de la literatura / Adams-Oliver syndrome and associated complications: Report of a family in Colombia and review of the literature

El síndrome de Adams-Oliver es un trastorno congénito raro, caracterizado por aplasia cutis congénita en el cuero cabelludo, defectos terminales transversales de las extremidades y piel marmorata telangiectásica congénita. Este puede presentarse debido a diferentes patrones de herencia de tipo autosómico dominante o autosómico recesivo, o por mutaciones dominantes de novo. Aunque el síndrome de Adams-Oliver es una enfermedad poco frecuente, es importante conocer sus características clínicas y patrones de herencia, para así establecer un correcto diagnóstico y sus posibles complicaciones durante el seguimiento. En el presente estudio, se describe el caso de una adolescente con síndrome de Adams-Oliver con patrón de herencia autosómica dominante, hipertensión pulmonar y bronquitis plástica. Había varios miembros de su familia con el mismo compromiso

The Adams-Oliver syndrome is a rare congenital disorder characterized by aplasia cutis congenita of the scalp, terminal transverse limb defects, and congenital telangiectatic cutis marmorata. It can occur through different inheritance patterns: autosomal dominant, autosomal recessive, or de novo dominant mutations. Although the Adams-Oliver syndrome is a rare disease, it is essential to know its clinical characteristics and inheritance patterns, to establish a correct diagnosis and its possible complications during follow-up. In the present study, we describe the case of an adolescent with Adams-Oliver syndrome with an autosomal dominant inheritance pattern, pulmonary hypertension and plastic bronchitis, and several compromised family members.

Analysis on cases of fetus limb deformity using systematic continuous sequence approach during early and middle pregnancy / 中华医学超声杂志（电子版）

Objective To summarize prenatal two-dimensional ultrasound examination results of different types of fetal limb deformity,and emphasise on some rare deformity disease such as phocomelia and sirenomelia.To investigate the value of systematic continuous sequence approach in the examination of fetal limb during pregnancy periods.Methods Eighteen thousand seven hundred and eight cases of fetus were selected from September 2014 to August 2016 in the 105th Hospital of Chinese People's Liberation Army,which were screened by routine and systematic ultrasonography.The systematic continuous sequence approach was used to focus on examination of the fetal limb.All fetuses with abnormal limbs were followed up.The ultrasonographic images were compared with the results of pathological examination and X-ray examination to summarize the ultrasonographic features of fetal limb deformities.Results Seventy-six cases of fetal limb deformity were detected by prenatal ultrasotmd system in 18 708 cases.Three cases were detected at 11-13 + 6 weeks of gestation,18 at 14-19 + 6 weeks,38 at 20-27 + 6 weeks,17 at 28-35 + 6 weeks.Types of limb deformities are as fllowing,11 cases of abnormal number of fingers (adactylism,polydactyly,syndactyly),2 cases of cleft hand deformity,45 cases of foot varus,1 case of sirenomelia and 4 cases of short limbs.Thirty-seven cases of fetal limb deformity combined with other system malformations and 12 cases were with multiple system malformations.Karyotypes were abnormal in 11 cases,including 3 cases of trisomy 21,6 cases of trisomy 18 and 3 cases of trisomy 13.One case of prenatal ultrasound diagnosis of twins with sirenomelia.An autopsy of twin fetus indicated that there were epactal toes at the left foot.Prenatal ultrasonography.Conclusions The systematic continuous sequence approach in early and middle pregnancy play the advantages of each pregnancy examination.The fetal limb deformity can be detected early by combining application of systematic continuous sequence approach.

Prenatal Ultrasonography in Assessing Limb Body Wall Complex at Gestation / 中国医学影像学杂志

PurposeTo explore the value of prenatal ultrasound in diagnosis of fetuses with limb body wall complex (LBWC).Material and MethodsThe ultrasound images and follow-up results were studied retrospectively in 20 cases of LBWC, and the ultrasonic features of LBWC were analyzed.ResultsAll 20 cases showed rather severe body wall defect and spinal abnormality, including 16 cases of abdominal wall defect, 4 cases of abdominal thoracoabdominal defect, 8 cases of idiopathic scoliosis, 2 cases of kyphosis, 3 cases of twist into a corner, 1 cases of distortion as S shape, and 6 cases of vertebral body arranged in disorder. Moreover, 16 cases presented abnormal umbilical cord,among which 11 had too short umbilical cord, 1 without umbilical cord, and 7 as single umbilical artery (3 cases with short cord). Five cases showed limb abnormalities, among which 2 cases were left lower limb absence, 1 cases as left upper limb absent, 1 cases as left foot varus and right foot slightly varus, and 1 cases as left foot drop.ConclusionPrenatal ultrasonography can accurately diagnose LBWC in time, so as to provide evidence for early clinical intervention.

Diagnosis of fetal congenital limb deformities by MRI / 中华放射学杂志

Objective To explore the diagnostic value of MRI on fetal congenital limb deformities.Methods Sixteen pregnant women,aged from 22 to 40 years (average 29 years) and with gestation from 22 to 39 weeks (average 29 weeks) were studied with a 1.5 T superconductive MR unit within 24 to 48 hours after ultrasound studies. Acquisitions consisted of coronal, sagittal, and axial slices relative to the fetal brain, spine, thorax, abdomen, especially limbs using 2D FIESTA sequences. Prenatal US and MR imaging findings were compared with postnatal diagnoses (4 fetuses) or autopsy (12 pregnant women,13 fetuses). Postnatal evaluation included US, MR imaging, computed tomography, and physical examination. Results Of the sixteen pregnant women (15 with a single fetus and 1 with twin fetuses) ,17 fetuses were found. Those limb deformities of sixteen pregnant women included congenital both upper extremities amelia (1 case), sirenomelia sequence (1 case), micmmelia (5 cases, 1 of which were twins),bilateral clenched hands (2 cases), right pelydactyly (1 case), simple right ectrodactyly (1 case), right dactylolysis(1 case), simple club foot (2 cases), hydrocele spinalis with club foot (2 cases), 1 of the 2 cases with bilateral clinodactyly. In 14 of 16 cases, the diagnoses established by MR imaging were correct when compared with postnatal diagnosis, and prenatal MR diagnosis was inaccurate in 2 cases. Conclusion Prenatal MRI is effective in the assessment of congenital limb deformities of fetuses, it can yield information additional to that obtained with US, and further correct US diagnosis.