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Brachyphalangy Polydactyly and Tibial Aplasia/Hypoplasia


Presentation

  • The present report represents the ninth reported case and only the second case involving a female.[ncbi.nlm.nih.gov]
  • Bernardi P, Graziadio C, Rosa RF, Dall’Agnol L, Zen PR, Paskulin GA (2009) Additional features in a new case of a girl presenting brachyphalangy, polydactyly and tibial aplasia/hypoplasia.[link.springer.com]
  • In this review we will present the clinical features of Sotos syndrome cases with proven abnormalities in NSD1 .[journals.lww.com]
  • All the muscles of the leg and foot were present except for the tibialis posterior muscle, which was replaced by two atypical muscles. No muscular attachments reached the fibrous band. Several intertendinous connection bands were found.[unboundmedicine.com]
Broad Thumb
  • thumb brachydactyly syndactyly short metacarpals short phalanges (middle phalanges) Genitourinary Internal Genitalia Male: cryptorchidism Cardiovascular Heart: atrial septal defect total anomalous pulmonary venous connection Skeletal Feet: syndactyly[malacards.org]
  • thumbs Mental retardation short stature absent phalanges Mental retardation short stature Bombay phenotype Mental retardation short stature cleft palate unusual facies Mental retardation short stature deafness genital Mental retardation short stature[sosu.us]
Ectopia Lentis
  • Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 Eiken Skeletal Dysplasia Erosive Arthropathy EVEN-PLUS[rgd.mcw.edu]
Absent Nails
  • The limb defects consisted mainly of very short fingers with absent nails on some digits, and in the lower limbs a combination of absent tibia, complex preaxial polydactyly, syndactyly, and marked brachydactyly.[omim.org]
Hearing Impairment
  • Retardation MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME Microcephaly, Microphthalmia, Ectrodactyly of Lower Limbs, and Prognathism Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies MIDFACE HYPOPLASIA, HEARING[rgd.mcw.edu]
  • impairment Hearing loss Heart aneurysm Heart attack Heart block progressive, familial Heart block Heart defect round face congenital retarded development Heart defect tongue hamartoma polysyndactyly Heart defects limb shortening Heart hand syndrome Spanish[sosu.us]
Low Set Ears
  • Facial dysmorphism included telecanthus and a carp-shaped mouth, and she had dysplastic and low-set ears.[omim.org]
Short Neck
  • […] fibula short radius short ulna joint contractures (elbows and knees) mesomelic lower limb shortening more Genitourinary External Genitalia Female: absent labia majora small clitoris Skin Nails Hair Nails: absent/hypoplastic nails Head And Neck Neck: short[malacards.org]
Thin Lips
  • lips carp-shaped mouth Skeletal Limbs: short fibula short radius short ulna joint contractures (elbows and knees) mesomelic lower limb shortening more Genitourinary External Genitalia Female: absent labia majora small clitoris Skin Nails Hair Nails:[malacards.org]
Broad Nasal Bridge
  • nasal bridge small nose Head And Neck Ears: hearing loss preauricular tags cup-shaped ears overfolded helices cleft lobules Skeletal: delayed bone age Skin Nails Hair Skin: scalp defect pterygium (elbows and knees) aberrant skin dimples (elbows and knees[malacards.org]

Workup

Delayed Bone Age
  • bone age Skin Nails Hair Skin: scalp defect pterygium (elbows and knees) aberrant skin dimples (elbows and knees) Skeletal Spine: prominent sacrum[malacards.org]

Treatment

  • Treatment - Brachyphalangy- polydactyly- and tibial aplasia/hypoplasia Not supplied. Resources - Brachyphalangy- polydactyly- and tibial aplasia/hypoplasia[checkorphan.org]
  • Extensively updated to reflect advancements in the field, this fifth edition covers new imaging modalities such as pediatric neuroimaging, spinal fluid examination, neurophysiology, as well as the treatment and management of epilepsy, ADHD, infections[books.google.es]
  • Consult your personal physician or other professional health care provider when seeking individualized treatment regarding your medical diagnosis or condition.[varsome.com]
  • Research output : Contribution to journal › Article 2008 A new severity score index for phenotypic classification and evaluation of responses to treatment in type I Gaucher disease Di Rocco, M. , Giona, F., Carubbi, F., Linari, S., Minichilli, F., Brady[moh-it.pure.elsevier.com]

Prognosis

  • Prognosis - Brachyphalangy- polydactyly- and tibial aplasia/hypoplasia Not supplied. Treatment - Brachyphalangy- polydactyly- and tibial aplasia/hypoplasia Not supplied. Resources - Brachyphalangy- polydactyly- and tibial aplasia/hypoplasia[checkorphan.org]

Etiology

  • Only seven patients have been reported to date, and the etiology of this syndrome is unknown.[ncbi.nlm.nih.gov]

Epidemiology

  • Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular[books.google.es]
Sex distribution
Age distribution

Prevention

  • Prevention - Brachyphalangy- polydactyly- and tibial aplasia/hypoplasia Not supplied. Diagnosis - Brachyphalangy- polydactyly- and tibial aplasia/hypoplasia Not supplied.[checkorphan.org]
  • As well as dysfunction does not hold back neither prevent you from Surviving a common life. Online Having to deal with horseshoe kidney Will often Avert you against Residential normal, Say The fact To help you Mel Gibson. Yes, Collection it.[kidneycancersymptoms.blogspot.com]

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