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Short Limbs
Published in Amar Bhide, Asma Khalil, Aris T Papageorghiou, Susana Pereira, Shanthi Sairam, Basky Thilaganathan, Problem-Based Obstetric Ultrasound, 2019
Amar Bhide, Asma Khalil, Aris T Papageorghiou, Susana Pereira, Shanthi Sairam, Basky Thilaganathan
Unilateral femoral shortening is suggestive of focal femoral hypoplasia syndromes. Typically, the prognosis is good in most of these syndromes. The finding of bilateral shortening is suggestive of achondrogenesis. The latter is usually lethal associated with micromelia (extreme shortening of the entire limb) and thoracic dystrophy.
Accident and Emergency
Published in Nagi Giumma Barakat, Get Through, 2006
This is a potentially lethal congenital dwarfism, usually inherited in an auto-somal recessive manner and very rare. It is characterized by typical skeletal dysplasias, such as a narrow thorax and micromelia, with respiratory and renal manifestations. The respiratory manifestations vary widely from respiratory failure and infantile death to a latent phenotype without respiratory symptoms. Other conditions to be included in the differential diagnosis are achondrogenesis and cartilage–hair hypoplasia.
Fetal Skeletal Dysplasias: Radiologic-Pathologic Classification of 72 Cases
Published in Fetal and Pediatric Pathology, 2022
Achondrogenesis type 1B was diagnosed based on very severe phenotype including extremely short limbs, narrow thorax, prominent, rounded abdomen, clubfeet and delayed ossification of the vertebral bodies and sacrum. Histologic examination showed non-homogeneous poor cartilage matrix, lacking the classic ground glass appearance with dense collagen rings around the chondrocytes, along with delayed and very poor ossification (Figure 9a–d). The moderate non-lethal form, corresponding to diastrophic dysplasia, was characterized by micromelia, clubfeet and hypoplasia of the first metacarpal that was oval shaped causing abduction of the thumbs (“hitchhiker thumbs”). Histologic examination showed non-homogeneous cartilage pericellular matrix with pale areas, disruption of the proliferative and hypertrophic zones by coarse collagen fibers and irregular invasion of the metaphyseal capillaries (Figure 9e–g).