Edit concept Question Editor Create issue ticket

Micromelic Bone Dysplasia with Cloverleaf Skull

Cloverleaf Skull - Micromelic Bone Dysplasia


Presentation

  • 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]
  • Angie Duker The documents contained in this web site are presented for information purposes only.[orpha.net]
  • Present On Admission POA Help "Present On Admission" is defined as present at the time the order for inpatient admission occurs — conditions that develop during an outpatient encounter, including emergency department, observation, or outpatient surgery[icd10data.com]
Wheelchair Bound
  • Weakness may be present during childhood or adolescence or may not become evident until the third decade of life, and some affected individuals become wheelchair-bound in their fifties. Ptosis and limitation of eye movements occur frequently.[mendelian.co]
Pneumonia
  • […] the hand Oculomotor nerve palsy Thyroid hypoplasia Excessive daytime somnolence Cavum septum pellucidum Overlapping fingers Small placenta Microglossia Microdontia of primary teeth Relative macrocephaly Hyperhidrosis Abnormal cardiac septum morphology Pneumonia[mendelian.co]
  • […] connect frequent is association with the amniotic band syndrome most frequent congenital malformation of the oral cavity, incidence 1 : 950 symptomes: disorders of sucking, swallowing, phonation frequent aspiration of the food reccurent otitides and pneumonias[atlases.muni.cz]
Gingival Overgrowth
  • overgrowth Long eyelashes Hypoplasia of the maxilla Shawl scrotum Rib fusion Rectovaginal fistula Abnormal hair pattern Beaking of vertebral bodies Neurodevelopmental delay Sprengel anomaly Overlapping toe Abnormal vertebral morphology Vertebral fusion[mendelian.co]
Low-Set Posteriorly Rotated Ears
  • , posteriorly rotated ears Postnatal growth retardation Anxiety Wide mouth Neonatal hypotonia Fatigable weakness Lower limb muscle weakness Stillbirth Areflexia of lower limbs Falls Urinary incontinence Open mouth Frequent falls Respiratory insufficiency[mendelian.co]
Neck Muscle Weakness
  • muscle weakness Functional respiratory abnormality Head tremor Spherocytosis Diaphragmatic eventration Birth length greater than 97th percentile Slender toe Respiratory failure requiring assisted ventilation Hepatic hemangioma Peripheral neuropathy Edema[mendelian.co]
Proximal Muscle Weakness
  • muscle weakness in upper limbs Proximal muscle weakness in lower limbs Exercise-induced myalgia Restrictive deficit on pulmonary function testing Peripheral axonal neuropathy Slow progression Occipital encephalocele Muscular dystrophy Abnormality of[mendelian.co]
Sparse Eyelashes
  • eyelashes Hemivertebrae Vesicoureteral reflux Highly arched eyebrow Pectoralis hypoplasia Hernia Brachycephaly Poliosis Upslanted palpebral fissure Bull's eye maculopathy Bifid ribs Cerebral cortical atrophy Hyporeflexia Hypothyroidism Midface retrusion[mendelian.co]
Hyperhidrosis
  • […] stenosis Ulnar deviation of the hand or of fingers of the hand Oculomotor nerve palsy Thyroid hypoplasia Excessive daytime somnolence Cavum septum pellucidum Overlapping fingers Small placenta Microglossia Microdontia of primary teeth Relative macrocephaly Hyperhidrosis[mendelian.co]
Excessive Wrinkled Skin
  • wrinkled skin Craniofacial dysostosis Abnormality of the sacroiliac joint Decreased liver function Waddling gait Hemangioma Nephrocalcinosis Accelerated skeletal maturation EMG abnormality Narrow face Nephrolithiasis Abnormal bleeding Gait disturbance[mendelian.co]
Mask-like Facies
  • Gonadal dysgenesis Pachygyria Partial agenesis of the corpus callosum Optic nerve hypoplasia Adducted thumb Lissencephaly Trophic changes related to pain Large fontanelles Cephalocele Abnormality of the skeletal system Slender long bone Narrow mouth Mask-like[mendelian.co]
Tremor
  • […] thrive Villous atrophy Hypertensive crisis Self-mutilation Impaired ocular abduction Cerebellar vermis hypoplasia Sparse and thin eyebrow Thoracic dysplasia Conical tooth Broad philtrum Hyperextensibility of the finger joints Tall stature Intention tremor[mendelian.co]
Neonatal Hypotonia
  • hypotonia Fatigable weakness Lower limb muscle weakness Stillbirth Areflexia of lower limbs Falls Urinary incontinence Open mouth Frequent falls Respiratory insufficiency due to muscle weakness EMG: myopathic abnormalities Ophthalmoparesis Easy fatigability[mendelian.co]
Cerebral Calcification
  • calcification Mandibular prognathia Akinesia Acanthosis nigricans Congenital contracture Abnormal facial shape Cavernous hemangioma Large for gestational age Centrally nucleated skeletal muscle fibers Severe muscular hypotonia Generalized amyotrophy[mendelian.co]

Treatment

  • If aggressive treatment is deferred, palliative treatment is something that consists of keeping the newborn comfortable, warm, and nourished.[disabled-world.com]
  • Your child’s doctor may work with a team of specialists to develop and deliver a treatment plan.[healthline.com]
  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]
  • There are several methods for treatment of OI, ranging from pharmaceutical to surgical options. In pharmaceutical treatment, the most common method is the use of bisphosphonates (BPs).[journals.sagepub.com]

Prognosis

  • 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 - Thanatophoric dysplasia- type 2 Not supplied. Treatment - Thanatophoric dysplasia- type 2 Not supplied. Resources - Thanatophoric dysplasia- type 2 Not supplied.[checkorphan.org]
  • Although this distress can be treated by intense respiratory care, the long-term prognosis is poor. Figure 694-1 Stillborn infant with thanatophoric dysplasia.[ldysinger.com]
  • Genetic counseling and evaluation of the prognosis on the basis of molecular results should be considered an important issue.[jdrntruhs.org]

Etiology

  • Etiology TD2 is caused by a single missense mutation (K650E) 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]
  • In most cases the etiology is unknown , probably multifactorial.[atlases.muni.cz]
  • 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 less common than TD1 (see this term).[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]
  • Rasmussen SA, Bieber FR, Benacerraf BR, Lachman RS, Rimoin DL, Holmes LB: Epidemiology of osteochondrodysplasias: changing trends due to advances in prenatal diagnosis. Am J Med Genet 1996;61:49–58.[karger.com]
  • Epidemiology The prevalence is unknown but it is less common than TD1 (see this term).[rarediseases.info.nih.gov]
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]
  • […] common genetic form of dwarfism, achondroplasia Shiang, R , Thompson, LM , Zhu, YZ , Church, DM , Fielder, TJ , Bocian, M , Winokur, ST , Wasmuth, JJ Cell 1994 15282208 Biochemical analysis of pathogenic ligand-dependent FGFR2 mutations suggests distinct pathophysiological[reactome.org]
  • 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]
  • […] nervous system abnormalities Temporal lobe dysplasia Enlarged head Hydrocephalus Brain stem hypoplasia Causes - Thanatophoric dysplasia- type 2 Hydrocephalus Swollen brain Elevated intracranial pressure Paget\'s disease of bone Congenital brain disorders Prevention[checkorphan.org]
  • Transplantation Substance Use and Addiction Surgery Surgical Innovation Surgical Pearls Teachable Moment Technology and Finance The Rational Clinical Examination Tobacco and e-Cigarettes Toxicology Trauma and Injury Treatment Adherence United States Preventive[jamanetwork.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]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!