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Indian Journal of Pediatrics Jun 2001A severely growth retarded baby was born at 38 weeks gestation. He had multiple craniofacial anomalies, microbrachycephaly, phocomelia in the upper limbs and renal cysts... (Review)
Review
A severely growth retarded baby was born at 38 weeks gestation. He had multiple craniofacial anomalies, microbrachycephaly, phocomelia in the upper limbs and renal cysts visible on ultrasound. He died of recurrent apneas. The autopsy showed left sided multicystic dysplastic kidney and absence of one testis. Cytogenetic studies did not reveal any abnormality. The phenotypic features match those described in the Roberts-SC phocomelia syndrome. A literature review revealed that 50% of these patients have chromosomal defects and antenatal detection is possible on ultrasound and by chromosome analysis of the amniocytes.
Topics: Abnormalities, Multiple; Chromosome Aberrations; Chromosome Disorders; Ectromelia; Female; Fetal Growth Retardation; Genes, Recessive; Humans; Infant, Newborn; Male; Pregnancy
PubMed: 11450388
DOI: 10.1007/BF02723253 -
American Journal of Medical Genetics.... Nov 2011Epidemiologic data on phocomelia are scarce. This study presents an epidemiologic analysis of the largest series of phocomelia cases known to date. Data were provided by... (Review)
Review
Phocomelia: a worldwide descriptive epidemiologic study in a large series of cases from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature.
Epidemiologic data on phocomelia are scarce. This study presents an epidemiologic analysis of the largest series of phocomelia cases known to date. Data were provided by 19 birth defect surveillance programs, all members of the International Clearinghouse for Birth Defects Surveillance and Research. Depending on the program, data corresponded to a period from 1968 through 2006. A total of 22,740,933 live births, stillbirths and, for some programs, elective terminations of pregnancy for fetal anomaly (ETOPFA) were monitored. After a detailed review of clinical data, only true phocomelia cases were included. Descriptive data are presented and additional analyses compared isolated cases with those with multiple congenital anomalies (MCA), excluding syndromes. We also briefly compared congenital anomalies associated with nonsyndromic phocomelia with those presented with amelia, another rare severe congenital limb defect. A total of 141 phocomelia cases registered gave an overall total prevalence of 0.62 per 100,000 births (95% confidence interval: 0.52-0.73). Three programs (Australia Victoria, South America ECLAMC, Italy North East) had significantly different prevalence estimates. Most cases (53.2%) had isolated phocomelia, while 9.9% had syndromes. Most nonsyndromic cases were monomelic (55.9%), with an excess of left (64.9%) and upper limb (64.9%) involvement. Most nonsyndromic cases (66.9%) were live births; most isolated cases (57.9%) weighed more than 2,499 g; most MCA (60.7%) weighed less than 2,500 g, and were more likely stillbirths (30.8%) or ETOPFA (15.4%) than isolated cases. The most common associated defects were musculoskeletal, cardiac, and intestinal. Epidemiological differences between phocomelia and amelia highlighted possible differences in their causes.
Topics: Adult; Americas; Australia; Biomedical Research; China; Congenital Abnormalities; Ectromelia; Epidemiologic Studies; Europe; Female; Humans; Infant, Newborn; International Cooperation; Male; Population Surveillance; Pregnancy; Prevalence; Registries; Young Adult
PubMed: 22002800
DOI: 10.1002/ajmg.c.30320 -
American Journal of Obstetrics and... Aug 1962
Topics: Congenital Abnormalities; Ectromelia; Hypnotics and Sedatives
PubMed: 13888515
DOI: 10.1016/0002-9378(62)90131-x -
South African Medical Journal =... Apr 1972
Topics: Abnormalities, Drug-Induced; Ectromelia; Female; Humans; Infant, Newborn; Maternal-Fetal Exchange; Phenobarbital; Phenytoin; Pregnancy
PubMed: 5033176
DOI: No ID Found -
Journal of the Indian Medical... May 1995
Topics: Ectromelia; Fetal Death; Humans; Infant, Newborn
PubMed: 8834150
DOI: No ID Found -
American Journal of Obstetrics and... Oct 1962
Topics: Congenital Abnormalities; Ectromelia; Hypnotics and Sedatives; Thalidomide
PubMed: 13919870
DOI: 10.1016/0002-9378(62)90079-0 -
The British Journal of Radiology Jul 1962
Topics: Congenital Abnormalities; Ectromelia; Extremities; Fetus; Humans; Limb Deformities, Congenital; Radiography
PubMed: 14455217
DOI: 10.1259/0007-1285-35-415-462 -
American Journal of Medical Genetics Sep 1994We report on an 8-year-old boy with a pattern of multiple congenital anomalies that strongly suggest DK-phocomelia syndrome. Birth findings included bilateral upper limb... (Review)
Review
We report on an 8-year-old boy with a pattern of multiple congenital anomalies that strongly suggest DK-phocomelia syndrome. Birth findings included bilateral upper limb amelia, occipital encephalocele, agenesis of the corpus callosum, right auricular tag, scoliosis, small penis, and cryptorchidism. Dental malocclusion was observed in the follow-up. This is the first case with on 8-year follow-up report of DK-phocomelia syndrome.
Topics: Abnormalities, Multiple; Agenesis of Corpus Callosum; Child; Cryptorchidism; Ectromelia; Encephalocele; Humans; Male; Penis; Scoliosis; Syndrome; Time Factors
PubMed: 7810557
DOI: 10.1002/ajmg.1320520304 -
Wiener Medizinische Wochenschrift (1946) Mar 2021Little is known about pregnancy rates and outcome in women with motoric disabilities like cerebral palsy (CP) and even less in phocomelia. (Review)
Review
BACKGROUND
Little is known about pregnancy rates and outcome in women with motoric disabilities like cerebral palsy (CP) and even less in phocomelia.
OBJECTIVE
To show complications and psychosocial issues in relation to pregnancy burdened by impaired mobility in CP and phocomelia.
CASE REPORT
We present an overview of the pregnancy outcome in two cases of sisters with cerebral palsy and phocomelia. We show complications and psychosocial issues in relation to pregnancy burdened by impaired mobility. Both sisters had a successful pregnancy outcome.
CONCLUSION
There is a need to increase awareness, education, support, and advocacy in order to optimize pregnancy course and outcome in women with CP and phocomelia.
Topics: Cerebral Palsy; Ectromelia; Female; Humans; Pregnancy; Pregnancy Outcome
PubMed: 33315162
DOI: 10.1007/s10354-020-00791-w -
Fetal and Pediatric Pathology 2024Phocomelia is a congenital limb deformity in which the proximal part of the upper or lower limb does not develop. Occasionally the malformed limb may be located...
Phocomelia is a congenital limb deformity in which the proximal part of the upper or lower limb does not develop. Occasionally the malformed limb may be located ectopically. We present a frontal phocomelia in a three-year-old girl with right-hand phocomelia and thoracoschisis. The patient's arm was connected directly from the front of the chest, with a rudimentary thumb and two fingers. The truncated arm was not functional. The acromioclavicular joint was abnormal and ectopic, the limb articulated with the medial side of sternum. The thoracoschisis manifested as eventration of the right liver lobe and right side of chest wall. Ectopic phocomelia can be associated with thoracoschisis, it can be nonfunctional, and can articulate with the sternum.
Topics: Female; Humans; Child, Preschool; Ectromelia; Limb Deformities, Congenital; Thoracic Wall; Liver; Extremities
PubMed: 37715664
DOI: 10.1080/15513815.2023.2258417