The present report may serve as an introduction to the complex radiological pattern in patients with hereditary brachydactyly syndrome. (orig.) [inis.iaea.org]

All of these affected limbs are short, shoulder dysplasias are present, and hands are never completely normal. [link.springer.com]

We report on two unrelated children who presented with the full clinical criteria of agenesis of the corpus callosum. Strikingly, both presented with variable upper and lower limb deformities. [hindawi.com]

However, no such findings were present in our patient. [jcnonweb.com]

Presentation Paediatric patient with shortening and contractures of the bilateral upper limbs. Patient Data Age: 1 year Gender: Female Loading images... [radiopaedia.org]

• Atrial Septal Defect

  The first is the Holt-Oram syndrome (an autosomal dominant trait, OMIM 142900) with variable thumb anomaly and atrial septal defect due to TBX5 mutations ([Superti-Furga et al. 2001]; [Gurrieri et al. 2002]; [Kornak and Mundlos 2003]). [tandfonline.com]

• Hypertension

  Primary pulmonary hypertension, congenital heart defect, central nervous system malformations, hypo- and aplastic toes: another case of Yunis-Varon syndrome or report of a new entity. Eur J Med Genet 2012;55:27-31. [medlink.com]

• Fracture

  The infant did not have long bone fractures, and the femurs were not markedly bowed. [4] Our case also did not have long bone fracture or bowing of femur. [jcnonweb.com]

  Antley and Bixler in 1975 were the first to report a child with trapezoidocephaly, midface hypoplasia, radiohumeral synostoses, and fractures of the femur. [jpgmonline.com]

  No fracture or cortical destruction was noted. [radiopaedia.org]

  Patients with a similar phenotype and fractures have been described (Malfait et al., 2013). [203.71.232.25]

  № 143A, с. 521 https://doi.org/10.1002/ajmg.a.31612 2017 http://www.health.alberta.ca/documents/Congenital-Anomalies-Report-11-2017.pdf Antley, Trapezoidocephaly, midface hypoplasia and cartilage abnormalities with multiple synostoses and skeletal fractures [ouci.dntb.gov.ua]

• Spontaneous Rupture of Membranes

  These authors describe an infant boy born at 34 weeks of gestational age after spontaneous rupture of membranes and otherwise normal pregnancy. [tandfonline.com]

Because the radius and many organ systems develop at the same time, a systemic workup is required. [musculoskeletalkey.com]

Critical Points Treatment of the Wrist in Radial Longitudinal Deficiency • The basic goals of treatment are to (1) correct the radial deviation of the wrist, (2) balance the wrist on the forearm, (3) maintain wrist and finger motion, (4) promote growth [musculoskeletalkey.com]

Occasional nasal obstruction needs treatment with saline nasal drops. Enucleation of eye has been planned. [jcnonweb.com]

Early aggressive intervention and addressing major congenital malformations forms the mainstay of treatment. Prenatal ultrasonographic diagnosis and genetic counselling play an important role. :: References 1. Jones KL. [jpgmonline.com]

Prognosis of the disease is good once the perinatal period has passed. Joint contractures have improved with age and passive range-of-motion exercises. [jcnonweb.com]

Prognosis is guarded in infancy and childhood, and improves with age. [jpgmonline.com]

Prognosis: One third of affected children are alive, and some have had quite satisfactory development. Some patients with the syndrome have normal intelligence, which suggests a normally developing brain. [thefetus.net]

PMID: 15599234 Prognosis Oka K, Tanaka H, Shigi A, Abe S, Miyamura S, Shiode R, Kazui A, Murase T J Pediatr Orthop 2020 Nov/Dec;40(10):e922-e926. doi: 10.1097/BPO.0000000000001648. [203.71.232.25]

[…] limbs Carpal synostosis Humeroradial synostosis Tarsal coalitions Abnormality of the musculoskeletal system Brachycephaly Carpal synostosis Frontal bossing Humeroradial synostosis Plagiocephaly Tarsal coalitions Ear malformation Microtia Small earlobe Etiology [ncbi.nlm.nih.gov]

Etiology J Pediatr Orthop 2020 Nov/Dec;40(10):e922-e926. doi: 10.1097/BPO.0000000000001648. PMID: 32769839 Kim HT, Can LV, Ahn TY, Kim IH Clin Orthop Surg 2017 Dec;9(4):521-528. Epub 2017 Nov 10 doi: 10.4055/cios.2017.9.4.521. [203.71.232.25]

6 Boycott, Clinical genetics and the Hutterite population: A review of Mendelian disorders, American Journal of Medical Genetics Part A, № 146A, с. 1088 https://doi.org/10.1002/ajmg.a.32245 Calzolari, Limb reduction defects in Emilia Romagna, Italy: Epidemiological [ouci.dntb.gov.ua]

Cranial vault remodeling to relieve craniosynostosis is important for the prevention of mental impairment22, [23], [24]. Support groups: FACES: The National Craniofacial Association The Children's Craniofacial Association References: [1] Jones (Ed.) [thefetus.net]

Timely diagnosis allows for years of preparation to search for an appropriate bone marrow match that may prevent the child from dying from aplastic anemia. [musculoskeletalkey.com]