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]

• Short Stature

  Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects MedGen UID: 480034 •Concept ID: C3278404 • Disease or Syndrome CHST3-related skeletal dysplasia is characterized by short stature of prenatal onset, joint [203.71.232.25]

  A dominantly inherited malformation syndrome with short stature, upper limb anomaly, minor craniofacial anomalies, and absence of TBX5 mutations: Report of a Thai family. Am J Med Genet 2002;111: 301–306.Kaplan BS, Bellah RD. [tandfonline.com]

• Anemia

  Failure to ascertain the diagnosis of Fanconi anemia will have lifelong ramifications for the child, family, and physician. Fanconi anemia can be diagnosed before the onset of bone marrow failure. [musculoskeletalkey.com]

• Flexion Contracture

  Other congenital malformations such as simian creases, short neck, slight shortening of the limbs, flexion contractures, pes cavus, talipes, ventricular septal defects, and hydronephrosis have been described in few cases [17]. [hindawi.com]

  [from HPO] Mietens syndrome MedGen UID: 82695 •Concept ID: C0265249 • Disease or Syndrome Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of [203.71.232.25]

• Low Set Ears

  […] was characterized by a very large anterior fontanel, cranium bifidum occultum, high and broad forehead, high frontal hairline, sparse scalp hair, medial thinning of the eyebrows, hypertelorism, epicanthus inversus, depressed nasal bridge, exotropia, low-set [cags.org.ae]

  set ears, high arched palate, choanal stenosis, bilateral stenotic external auditory canal, short neck, hemangioma over nose and philtrum, and depressed nasal bridge. [jcnonweb.com]

• Hypertelorism

  […] with Craniofacial Anomalies is an extremely rare skeletal condition characterized by humero-radial synostosis, rhizomelic limb shortening, and a distinctive craniofacial appearance, including high broad forehead and frontal hairline, sparse scalp hair, hypertelorism [cags.org.ae]

  Both children had a distinctive facial appearance with a high, broad forehead, high frontal hairline, sparse scalp hair, hypertelorism, epicanthus inversus, depressed nasal bridge, and exotropia, as well as low-set, posteriorly rotated, and malformed [findzebra.com]

  Other conditions to be considered Carnevale Syndrome: Characterized by hypertelorism, downslanting palpebral fissures, ptosis, strabismus synophrys, large fleshy ears, and lozenge-shaped diastasis around the umbilicus. [accesspediatrics.mhmedical.com]

  Both patients had distinctive craniofacial features including cranium bifidum occultum, hypertelorism, epicanthus inversus, capillary hemangiomata, and malformed ears. Musculoskeletal examination revealed… Expand [semanticscholar.org]

  Facially, there is frontal bossing, a depressed nasal bridge, hypertelorism, and a flat facies. [hindawi.com]

• Short Neck

  neck, and capillary hemangiomata covering the forehead, nose, and the back of the scalp. [cags.org.ae]

  neck, hemangioma over nose and philtrum, and depressed nasal bridge. [jcnonweb.com]

  Other congenital malformations such as simian creases, short neck, slight shortening of the limbs, flexion contractures, pes cavus, talipes, ventricular septal defects, and hydronephrosis have been described in few cases [17]. [hindawi.com]

  Characteristic radiological findings include platyspondyly, osteopenia (predominantly in the vertebrae), widened metaphyses (elbow, wrist, interphalanges), flat epiphyses (femoral neck and short tubular bones), and small broad ilea. [203.71.232.25]

• Frontal Bossing

  […] synostosis Frontal bossing Humeroradial synostosis Plagiocephaly Tarsal coalitions Ear malformation Microtia Small earlobe Etiology J Craniofac Surg 2013 Jan;24(1):e21-3. doi: 10.1097/SCS.0b013e318267be0f. [ncbi.nlm.nih.gov]

  Human phenotypes related to Humeroradial Synostosis with Craniofacial Anomalies: 31 (show all 10) # Description HPO Frequency HPO Source Accession 1 frontal bossing 31 HP:0002007 2 wide nasal bridge 31 HP:0000431 3 microtia 31 HP:0008551 4 brachycephaly [malacards.org]

  Facially, there is frontal bossing, a depressed nasal bridge, hypertelorism, and a flat facies. [hindawi.com]

  We are reporting a female term appropriate for gestational age newborn with clinical features of frontal bossing, brachycephaly, proptosis, synostosis of radioulnar joints, hemangioma over nose and philtrum, hydrocephalus suggestive of ABS. [jcnonweb.com]

• Depressed Nasal Bridge

  nasal bridge, and exstropia, among others. [cags.org.ae]

  Both children had a distinctive facial appearance with a high, broad forehead, high frontal hairline, sparse scalp hair, hypertelorism, epicanthus inversus, depressed nasal bridge, and exotropia, as well as low-set, posteriorly rotated, and malformed [findzebra.com]

  Facially, there is frontal bossing, a depressed nasal bridge, hypertelorism, and a flat facies. [hindawi.com]

• Large Anterior Fontanels

  Both girls had a very large anterior fontanel, cranium bifidum occultum, and plagiocephaly, but no craniosynostosis. At ages 2 and 3 years, respectively, both had achieved developmental milestones with mild delay. [findzebra.com]

  Evaluation at 6-months of age confirmed this distinctive craniofacial appearance, which was characterized by a very large anterior fontanel, cranium bifidum occultum, high and broad forehead, high frontal hairline, sparse scalp hair, medial thinning of [cags.org.ae]

  Craniofacial abnormalities found were brachycephaly (cephalic index=95.45), frontal bossing, large anterior fontanel, open metopic suture, synostosis in sagittal and lambdoid sutures, deficient skull bones over both temporal fosse, proptosis of right [jcnonweb.com]

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

• Staphylococcus Aureus

  Sepsis screen was positive on day four and blood culture revealed late onset sepsis by Staphylococcus aureus. 17-Alpha Hydroxyprogesterone was found to be normal at 10 ng/dl. There is no history suggestive of adrenal insufficiency. [jcnonweb.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]

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]

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]

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]