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Skeletal Radiology Apr 2019Following the thalidomide disaster (1958-62), Henkel and Willert analysed the pattern of dysmelia in the long bones (J Bone Joint Surg Br. 51:399-414, 1969) and the... (Review)
Review
BACKGROUND
Following the thalidomide disaster (1958-62), Henkel and Willert analysed the pattern of dysmelia in the long bones (J Bone Joint Surg Br. 51:399-414, 1969) and the extremities, Willert and Henkel (Z Orthop Ihre Grenzgeb. 107:663-75, 1970). Willert's material from deformed extremities is re-examined here asking "How does thalidomide reduce the skeleton?"
MATERIALS AND METHODS
We reviewed the original data collection of Willert and Henkel (Z Orthop Ihre Grenzgeb. 107:663-75, 1970), comprising musculoskeletal histology slides from 30 children affected by thalidomide with radiographs of hands (19 cases) and feet (4 cases).
RESULTS
All original observations by Willert and Henkel (Z Orthop Ihre Grenzgeb. 107:663-75, 1970), were verified. Radial rays of the hand disappeared early, but the foot was spared until late. Radiology confirms that bone reduction in the hand (aplasia or hypoplasia in the thumb and index finger) coincides with sensory segmental nerve C6. In the foot, reduction of the toes is rare, but mesenchymal excess (polydactyly) occurs in the hallux (L5 sclerotome), usually associated with absent tibia (L4 sclerotome). Histology confirms skeletal mesenchymal components to be unremarkable, contrasting with grossly abnormal bony architecture, a striking discordance between microscopic and macroscopic findings. No necrosis or vascular pathology was seen.
CONCLUSION
The basic lesion was an abnormal quantity rather than quality of mesenchyme. Cell populations result from cellular proliferation, controlled in early limb bud formation by neurotrophism. Thalidomide is a known sensory neurotoxin in adults. In the embryo, sensorineural injury alters neurotrophism, causing increased or diminished cell proliferation in undifferentiated mesenchyme. Differentiation into normal cartilage occurs later, but within an altered mesenchymal mass. Reduction or excess deformity results, with normal histology, a significant finding. The primary pathological condition is not in the skeleton, but in the nerves.
Topics: Abnormalities, Drug-Induced; Extremities; Humans; Infant, Newborn; Limb Deformities, Congenital; Peripheral Nervous System Diseases; Thalidomide
PubMed: 30341712
DOI: 10.1007/s00256-018-3086-2 -
British Medical Journal Mar 1965
Topics: Abdominal Wall; Congenital Abnormalities; Gastroschisis; Humans; Infant; Infant, Newborn
PubMed: 14248452
DOI: 10.1136/bmj.1.5437.771 -
Clinics in Perinatology Jun 2015In the perinatal setting, chromosome imbalances cause a range of clinically significant disorders and increase the risk for other particular phenotypes. As technologies... (Review)
Review
In the perinatal setting, chromosome imbalances cause a range of clinically significant disorders and increase the risk for other particular phenotypes. As technologies have improved to detect increasingly smaller deletions and duplications, collectively referred to as copy number variants (CNVs), clinicians are learning the significant role that these types of genomic variants play in human disease and their high frequency in ∼ 1% of all pregnancies. This article highlights key aspects of CNV detection and interpretation used during the course of clinical care in the prenatal and neonatal periods. Early diagnosis and accurate interpretation are important for targeted clinical management.
Topics: Aneuploidy; Congenital Abnormalities; DNA Copy Number Variations; Genetic Testing; Genome, Human; Humans; Infant, Newborn
PubMed: 26042902
DOI: 10.1016/j.clp.2015.03.001 -
Pediatrics and Neonatology Apr 2017With the growing understanding of the magnitude of genetic diseases in newborns and equally rapid advancement of tools used for genetic diagnoses, healthcare providers... (Review)
Review
With the growing understanding of the magnitude of genetic diseases in newborns and equally rapid advancement of tools used for genetic diagnoses, healthcare providers must have a sufficient knowledge base to both recognize and evaluate genetic diseases in the neonatal period. Genetic assessment has become an essential aspect of medicine, and professionals need to know when genetic evaluation is indispensable. Much progress has been made in recent years in utilizing massively parallel sequencing for rapid diagnosis of genetic conditions in neonates. Next-generation sequencing is increasingly being used for noninvasive prenatal diagnosis, and it may become an essential component of newborn screening. This review will define some basic genetic terms and concepts, explain the gamut of genetic testing available for early diagnosis of genetic diseases, and describe some common chromosomal abnormalities, genomic disorders, and single-gene diseases relevant to neonatal medicine.
Topics: Chromosome Aberrations; Congenital Abnormalities; Early Diagnosis; Genetic Testing; Humans; Infant, Newborn; Microarray Analysis; Mitochondrial Diseases; Neonatal Screening; Neonatology; Sequence Analysis
PubMed: 28277305
DOI: 10.1016/j.pedneo.2016.07.002 -
BMJ Case Reports Jun 2014
Topics: Cleft Palate; Congenital Abnormalities; Heart Septal Defects, Ventricular; Holoprosencephaly; Humans; Infant, Newborn; Male; Microcephaly; Nose; Syndrome
PubMed: 24913079
DOI: 10.1136/bcr-2014-203535 -
American Family Physician Feb 2004An examination of the feet is an essential component of an evaluation of a newborn. A thorough examination can be performed quickly. Despite its small size, the newborn... (Review)
Review
An examination of the feet is an essential component of an evaluation of a newborn. A thorough examination can be performed quickly. Despite its small size, the newborn foot is a complex structure. Most deformities can be diagnosed easily with physical examination alone, using few diagnostic studies. A thorough examination includes assessment of vascular, dermatologic, and neurologic status of the lower extremities, and observation, palpation, and evaluation of joint range of motion in both feet. Common newborn foot abnormalities include metatarsus adductus, clubfoot deformity, calcaneovalgus (flexible flatfoot), congenital vertical talus (rigid flatfoot), and multiple digital deformities-polydactyly, syndactyly, overlapping toes, and amniotic bands. Most treatments include conservative measures, such as observation, stretching, and splinting, which can be performed easily in the family medicine setting. Cases that require surgical correction should be referred to a subspecialist with expertise in correcting lower extremity deformities in children. When surgery is indicated, procedures generally are postponed for six to nine months so that the child will better tolerate anesthesia.
Topics: Foot; Foot Deformities, Congenital; Humans; Infant, Newborn
PubMed: 14989573
DOI: No ID Found -
The American Journal of Pathology Mar 1979
Review
Topics: Asphyxia Neonatorum; Congenital Abnormalities; Embryo, Mammalian; Female; Fetal Diseases; Fetus; Growth; Humans; Infant, Newborn; Infant, Newborn, Diseases; Infections; Inflammation; Male; Neoplasms; Pregnancy
PubMed: 371414
DOI: No ID Found -
Bulletin of the New York Academy of... Nov 1987
Topics: Adolescent; Child; Child, Preschool; Female; Foot Deformities, Congenital; Humans; Infant; Infant, Newborn; Male; Metatarsus
PubMed: 3446299
DOI: No ID Found -
Canadian Medical Association Journal Aug 1969
Topics: Abnormalities, Drug-Induced; Abnormalities, Multiple; Adult; Antiemetics; Female; Fingers; Foot Deformities, Congenital; Humans; Infant, Newborn; Leg
PubMed: 5806892
DOI: No ID Found -
British Medical Journal Aug 1964
Topics: Congenital Abnormalities; Humans; Infant, Newborn; Umbilical Cord
PubMed: 14160202
DOI: No ID Found