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Platyspondylic Lethal Skeletal Dysplasia Type San Diego

Platyspondylic Dysplasia Type San Diego


Presentation

  • We present perinatal imaging findings and molecular genetic analysis of thanatophoric dysplasia type I (TD1) in a fetus.[ncbi.nlm.nih.gov]
  • Moreover, the present observation confirms that thanatophoric dysplasia type 1 patients may show phenotypic heterogeneity related to cloverleaf skull and other congenital anomalies.[ncbi.nlm.nih.gov]
  • On examination, uterus was 8 weeks bigger than the period of amenorrhea corresponds to 34 weeks gestation, tense, nontender, no contractions, hydramnios present with breech presentation and fetal heart sounds were heard.[pubs.sciepub.com]
  • Routine ultrasonography revealed a single dead fetus in cephalic presentation with mild hydrocephalus and brachycephaly.[omjournal.org]
  • CASE 113 Clinical Presentation Two stillborn term infants present with similar short-limbed dwarfism.[radiologykey.com]
Dysmorphic Face
  • Physical examination revealed a large head with a prominent forehead in a cloverleaf shape, a dysmorphic face with a flat nose and very small extremities ( Figure 2 ). Figure 1: Ultrasound at 23 weeks showing Polyhydramnios and fetal morphology.[omicsonline.org]
Anhidrosis
  • Pfeiffer syndrome , Crouzon syndrome , Jackson–Weiss syndrome ) FGFR3 ( Achondroplasia , Hypochondroplasia , Thanatophoric dysplasia , Muenke syndrome ) INSR ( Donohue syndrome Rabson–Mendenhall syndrome ) NTRK1 ( Congenital insensitivity to pain with anhidrosis[en.wikipedia.org]
  • […] syndrome, Pfeiffer syndrome, Crouzon syndrome, Jackson–Weiss syndrome ) FGFR3 ( Achondroplasia, Hypochondroplasia, Thanatophoric dysplasia, Muenke syndrome ) INSR ( Donohue syndrome Rabson–Mendenhall syndrome ) NTRK1 ( Congenital insensitivity to pain with anhidrosis[en.wikipedia.org]
Narrow, Bell-Shaped Thorax
  • It is characterized by short limbs, a narrow, bell-shaped thorax, macrocephaly with a prominent forehead, and flattened vertebral bodies.[ncbi.nlm.nih.gov]
  • Additional symptoms of thanatophoric dysplasia include: Protuberant abdomen Generalized hypotonia Severe growth deficiency Narrow, bell-shaped thorax with short ribs Brachydactyly with a trident hand configuration Flat faces with low nasal bridge and[disabled-world.com]
  • . • Narrow bell shaped thorax. • Protuberant abdomen. • Marked shortened limbs (micromelia). • Brachydactyly with trident hand configuration. 3.5. Prognosis Newborns in thanatophoric dysplasia are stillborn or die shortly after birth.[pubs.sciepub.com]
  • Salient phenotypic features of TD include macrocephaly, narrow bell-shaped thorax with shortened ribs, normal trunk length, and severe shortening of the limbs. See the image below. Infant with thanatophoric dysplasia.[emedicine.medscape.com]
Mid-Face Hypoplasia
  • Curved arrow on the lateral radiograph demonstrates the frontal bossing, accentuated by mid-face hypoplasia.[nature.com]
  • Autopsy showed macrocephaly, frontal bossing, and mid-face hypoplasia with depressed nasal bridge, low-set ears, a large mouth, and a bell-shaped chest. Both the upper and lower limbs were grossly shortened and bowed.[jdrntruhs.org]

Workup

Hypercholesterolemia
  • CVID2 ) TNFRSF6 ( Autoimmune lymphoproliferative syndrome 1A ) Lipid receptor LRP : LRP2 ( Donnai–Barrow syndrome ) LRP4 ( Cenani–Lenz syndactylism ) LRP5 ( Worth syndrome , Familial exudative vitreoretinopathy 4 , Osteopetrosis 1 ) LDLR ( LDLR Familial hypercholesterolemia[en.wikipedia.org]
  • CVID2 ) TNFRSF6 ( Autoimmune lymphoproliferative syndrome 1A ) Lipid receptor LRP : LRP2 ( Donnai–Barrow syndrome ) LRP4 ( Cenani–Lenz syndactylism ) LRP5 ( Worth syndrome, Familial exudative vitreoretinopathy 4, Osteopetrosis 1 ) LDLR ( LDLR Familial hypercholesterolemia[en.wikipedia.org]

Treatment

  • If aggressive treatment is deferred, palliative treatment is something that consists of keeping the newborn comfortable, warm, and nourished.[disabled-world.com]
  • Physical findings: • Growth deficiency of limbs of less than 5%; • Platyspondyly of the vertebrae; • Large anterior fontanel; ICD-9: 756.4 TREATMENT Treatment measures of the few survivors may include: antiepileptic drugs to control seizures, shunt placement[secure.ssa.gov]
  • Management and treatment There is no cure for TD. In a prenatal setting, treatment aims to avoid potential pregnancy and delivery complications.[orpha.net]
  • Your child’s doctor may work with a team of specialists to develop and deliver a treatment plan.[healthline.com]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]

Prognosis

  • Prognosis Prognosis is poor with death occurring in utero or shortly after birth in almost all cases. A few rare cases have been reported where patients survived into childhood with significant medical intervention.[orpha.net]
  • Prognosis: The condition is lethal due to severe pulmonary hypoplasia. Recurrence: No increased risk.[fetalmedicine.org]
  • […] ribs small scapulae Skull and face relative macrocephaly frontal bossing proptosis nasal bridge flattening kleeblattschaedel (cloverleaf) skull (with type II) 2-4 Spine platyspondyly : flattening of vertebral bodies normal trunk length Treatment and prognosis[radiopaedia.org]
  • Prognosis The term thanatophoric is Greek for "death bearing". Infants with this condition are usually stillborn or die shortly after birth from respiratory failure; however, some children have survived into childhood with significant medical help.[wikidoc.org]

Etiology

  • Etiology TD1 is caused by one of several distinct missense mutations in the fibroblast growth factor receptor 3 ( FGFR3 ) gene, located to chromosome 4p16.3.[orpha.net]
  • Etiology Only gold members can continue reading. Log In or Register to continue Dec 21, 2015 Posted by in PEDIATRIC IMAGING Comments Off on 113 Thanatophoric Dysplasia[radiologykey.com]
  • While the clefting in this fetus may be coincidental, this report adds to the evidence that impaired FGF signaling contributes to the etiology of cleft lip and palate.[ashg.org]
  • Discussion Thanatophoric Dysplasia is a condition of unknown etiology with the majority of case reports being sporadic. Some authors have reported a dominant gene mutation to be associated with this condition.[jcdr.net]
  • Torrance type PLSD (MIM.151210) (no FGFR3 mutations described) San Diego type PLSD (MIM.270230) (FGFR3 mutations) Glasgow type PLSD (MIM.273680) SADDAN syndrome (severe achondroplasia with developmental delay and acanthosis nigricans) (FGFR3 mutations) Etiology[humpath.com]

Epidemiology

  • Summary Epidemiology The prevalence is unknown but it is more common than TD 2 (see this term).[orpha.net]
  • Summary Epidemiology The estimated incidence is about 1/20,000 to 1/50,000 births. Clinical description Characteristic morphological features are seen prenatally. Late in the 1st trimester, shortening of the long bones is apparent on ultrasound.[orpha.net]
  • Epidemiology of osteochondrodysplasisa: changing trends due to advances in prenatal diagnosis. Am J Med Genet. 1996;61:49-58. Spranger J. International nomenclature of constitutional bone diseases (the Paris nomenclature).[msjonline.org]
  • Epidemiology Frequency United States Thanatophoric dysplasia (TD) has an incidence of 1 per 20,000 to 1 per 50,000 births. International Incidence in Spain is reported as 1 per 37,000 births.[emedicine.medscape.com]
Sex distribution
Age distribution

Pathophysiology

  • The pathophysiology of thanatophoric dysplasia is notable. FGFR3 is a part of the tyrosine kinase receptor family. Usually, FGFR3 is a negative regulator of bone growth.[disabled-world.com]
  • Germline mosaicism has not been clearly documented but remains a theoretical possibility. [1, 2] Pathophysiology FGFR3 is part of the tyrosine kinase receptor family. Normally, FGFR3 is a negative regulator of bone growth.[emedicine.medscape.com]
  • Distinct selective forces and Neanderthal introgression shaped genetic diversity at genes involved in neurodevelopmental disorders Alessandra Mozzi, Diego Forni, Rachele Cagliani, Uberto Pozzoli, Mario Clerici & Manuela Sironi Scientific Reports (2017) Pathophysiological[nature.com]

Prevention

  • How can Thanatophoric Dysplasia be Prevented? Currently, Thanatophoric Dysplasia may not be preventable, since it is a genetic disorder.[dovemed.com]
  • These mutations can prevent your child’s bones from growing normally. While skeletal dysplasia runs in families, you can potentially pass the condition to your child even if you don’t have a known family history of it.[healthline.com]
  • Conclusion This case is published for its rarity and for highlighting the importance of early booking and anomaly scan ,early booking in this case would have prevented unnecessary mental agony to the mother for bearing a congenitally anomalous child.[pubs.sciepub.com]
  • The skin appears thick due to extreme redundancy and may prevent normal movement and positioning of limbs causing them to be oriented at right angles to the body. [5], [6], [7] The spine characteristically shows platyspondyly and H or U configuration[jdrntruhs.org]
  • The longest survival however has been reported to be of 9 years. 11 PREVENTION: Since majority of the cases of TD occur sporadically, parents with only one previously affected fetus the recurrence risk in subsequent pregnancies is low.[jemds.com]

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