Accordingly, the purpose of these diagrams is to present images of the common polydactyly, syndactyly and brachydactly malformations that have been described. [peds.ufl.edu]

We also present a review of GLI3-associated isolated limb anomalies, which indicates that GLI3 mutation leads primarily to two well-established polydactyly types: postaxial types A and B and crossed polydactyly type I. [ncbi.nlm.nih.gov]

One of the unrelated affected individuals presented with a phenocopy of CCD. [jmg.bmj.com]

More Obstetrical & Gynecological Survey. 71(5):295-300, May 2016. doi: 10.1097/OGX.0000000000000304 Pregnancies complicated by trisomy 13 (T13) or trisomy 18 (T18) present unique challenges for obstetric management. [journals.lww.com]

Original Investigations 70 Downloads 14 Citations Abstract Nine cases with the hydrometrocolpospolydactyly syndrome (4 males, 5 females) from four unrelated families are presented. [link.springer.com]

• Anemia

  1 2 Diamond-Blackfan Anemia 10 2 Diamond-Blackfan Anemia 11 2 Diamond-Blackfan Anemia 12 2 Diamond-Blackfan Anemia 3 2 Diamond-Blackfan Anemia 4 2 Diamond-Blackfan Anemia 5 2 Diamond-Blackfan Anemia 6 2 Diamond-Blackfan Anemia 7 2 Diamond-Blackfan Anemia [preventiongenetics.com]

  Blackfan-Diamond anemia imperforate anus cleft palate tibial defects Associated conditions pollex abductus abnormal connection between EPL and FPL tendons, seen in approximately 20% of hypoplastic and duplicated thumbs suggested by abduction of affected [orthobullets.com]

  […] syndrome Cataract-intellectual disability-hypogonadism syndrome Cataract-nephropathy-encephalopathy syndrome Catel-Manzke syndrome Caudal appendage-deafness syndrome Cenani-Lenz syndrome Central nervous system calcification-deafness-tubular acidosis-anemia [se-atlas.de]

  […] speech delay, easily distracted, dwarf like stature,webbed fingers/toes, large simple ears q10 qter 2 data unpublished Edit 122 9603415_2_1 45, XY, -7/ 46, XY, i(7)(q10) Shwachman-Diamond syndrome, refractory anemia, short stature, growth hormone deficiency [chr7.org]

  Nodular Heterotopia 6; PVNH6 OMIM:617201 Periventricular Nodular Heterotopia 7; PVNH7 OMIM:618185 Periventricular Nodular Heterotopia 8; PVNH8 OMIM:267000 Perlman Syndrome; PRLMNS OMIM:157950 Permanent Molars, Secondary Retention of OMIM:170900 Pernicious Anemia [informatics.jax.org]

• Pallister-Hall Syndrome

  OMIM:146510 Pallister-Hall Syndrome; PHS OMIM:601803 Pallister-Killian Syndrome; PKS OMIM:311450 Pallister W Syndrome OMIM:167600 Palmaris Longus Muscle, Absence of OMIM:615225 Palmoplantar Carcinoma, Multiple Self-Healing; MSPC OMIM:610644 Palmoplantar [informatics.jax.org]

  […] disorder Otopalatodigital syndrome type 1 Otopalatodigital syndrome type 2 Otospondylomegaepiphyseal dysplasia PMM2-CDG Pachydermoperiostosis Pachygyria-intellectual disability-epilepsy syndrome Pacman dysplasia Pai syndrome Pallister-Hall syndrome Pancreatic [se-atlas.de]

  3 Pachydermoperiostosis 1 Paget Disease of Bone 3 1 Pallister-Hall Syndrome 4 Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,XX Sex Reversal 4 Palmoplantar Keratoderma and Woolly Hair 2 Palmoplantar Keratoderma, Epidermolytic [preventiongenetics.com]

• Arachnodactyly

  […] with hand present Congenital absence/hypoplasia of thumb Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency Congenital bowing of long bones Congenital cataracts-facial dysmorphism-neuropathy syndrome Congenital contractural arachnodactyly [se-atlas.de]

  Susceptibility to 3 Congenital Bilateral Absence Of The Vas Deferens 3 Congenital Cataracts, Facial Dysmorphism, And Neuropathy 3 Congenital Cataracts, Hearing Loss, and Neurodegeneration 1 Congenital Central Hypoventilation syndrome 11 Congenital Contractural Arachnodactyly [preventiongenetics.com]

• Short Finger

  […] nose bridge, short nose, dysplastic ears, prominent lower lip, short neck, short fingers and toes, spade-shaped tapering fingers p22 624544 proband, IV-3 (VR) monosoy of 7p22-pter; mother had balanced t(7;12) Edit 10 MCN_19820001-058 46, XY, t(7;8)(10 [chr7.org]

• Trisomy 21

  13 (16 cases), sex chromosome aneuploidy (16 cases), trisomy 16 (3 cases), monosomy 21 (2 cases), triploidy (1 case), and microdeletion of 22q11.2 (1 case). [journals.lww.com]

• Abdominal Pain

  Knuckle Pads; PLACK OMIM:617507 Peho-Like Syndrome; PEHOL OMIM:260565 Peho Syndrome; PEHO OMIM:169400 Pelger-Huet Anomaly; PHA OMIM:618019 Pelger-Huet Anomaly with Mild Skeletal Anomalies; PHASK OMIM:260570 Pelger-Huet-Like Anomaly and Episodic Fever with Abdominal [informatics.jax.org]

• Macrocephaly

  […] delay syndrome Macrocephaly-spastic paraplegia-dysmorphism syndrome Macrodactyly of fingers Macrodactyly of fingers, bilateral Macrodactyly of fingers, unilateral Macrodactyly of toes Macrodactyly of toes, bilateral Macrodactyly of toes, unilateral Madelung [se-atlas.de]

  […] with Hand Anomalies OMIM:601466 Patent Ductus Venosus; PDV OMIM:169170 Patterson Pseudoleprechaunism Syndrome OMIM:557000 Pearson Marrow-Pancreas Syndrome OMIM:169200 Pechet Factor Deficiency OMIM:169300 Pectus Excavatum OMIM:600399 Pectus Excavatum, Macrocephaly [informatics.jax.org]

  Alopecia, Cutis Laxa, And Scoliosis 3 Macrocephaly/Autism Syndrome 3 Macrothrombocytopenia And Progressive Sensorineural Deafness 2 Macrothrombocytopenia, Autosomal Dominant, TUBB1-Related 2 Macular Corneal Dystrophy Type I 2 Macular Degeneration, Age-Related [preventiongenetics.com]

• Brachydactyly

  Another challenge in studying hand anomalies is that the literature will often refer to certain malformation types (e.g., brachydactyly type E) without defining what this type is. [peds.ufl.edu]

  […] type A1 Brachydactyly type A2 Brachydactyly type A4 Brachydactyly type A5 Brachydactyly type A6 Brachydactyly type A7 Brachydactyly type B Brachydactyly type B2 Brachydactyly type C Brachydactyly type E Brachydactyly-arterial hypertension syndrome Brachydactyly-elbow [se-atlas.de]

  Type A1 2 Brachydactyly Type A2 3 Brachydactyly Type C 3 Brachydactyly, type A1, C 1 Brachydactyly, Type B1 2 Brachydactyly, Type B2 3 Brachydactyly, Type D 1 Brachydactyly, Type E1 1 Brachydactyly, Type E2 1 Brachyolmia 4 with Mild Epiphyseal and Metaphyseal [preventiongenetics.com]

  […] klinodactyly V, psychomotor retardation, muscular hypotrophy pter qter 9272165, 10789928 SR39 complete heterodisomy Edit 81 9272165_SR8 46, XX, upd(7) mat IUGR, short stature, asymmetry, relative macrocephaly, irregular teeth, ear anomalies, clinodactyly V, brachydactyly [chr7.org]

• Short Extremities

  extremities, short fingers, clinodactyly of 5th fingers, short toes, pes planus p21.1 p15.2 rs12055954/ rs2704292 rs6946110/ rs6965433 15108196, 15378350 case 36 [15108196], case 2 [15378350] distal breakpoint of inversion disrupted HDAC9; 8-bp deletion [chr7.org]

• Global Developmental Delay

  […] membranous cranial ossification Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome Desbuquois syndrome Desmosterolosis Developmental and speech delay due to SOX5 deficiency Developmental delay-deafness syndrome, Hildebrand type Diaphanospondylodysostosis [se-atlas.de]

[…] technique a segmental distal transfer (on-top plasty) Postaxial Polydactyly (Small Finger Duplication) Epidemiology demographics Genetics inherited as autosomal dominant (AD) in African Americans more complex genetics in caucasians and a thorough genetic workup [orthobullets.com]

The reader learns of pediatric orthopedic deformity in relation to normal and abnormal developmental biology, the worsening of untreated disease with growth, and the diagnostic and treatment interventions required based on the stage of progression. * [books.google.com]

[…] operative goals of treatment to construct a thumb that is 80% of the size of the contralateral thumb resect smaller thumb (usually radial component) preserve / reconstruct medial collateral structures in order to preserve pinch function reconstruction [orthobullets.com]

With regard to treatment Management Considerations for Ongoing Pregnancies Complicated by Trisomy 13 and 18 Dotters-Katz, Sarah K.; Kuller, Jeffrey A.; Grace, Matthew R.; More Obstetrical & Gynecological Survey. 71(5):295-300, May 2016. doi: 10.1097/OGX [journals.lww.com]

Li 1 (Chinese Academy of Sciences) ... more Rifamycin-derived drugs, including rifampin, rifabutin, rifapentine, and rifaximin, have long been used as first-line therapies for the treatment of tuberculosis and other deadly infections. [scinapse.io]

Hand Malformations Hand and finger malformations represent a challenging area of clinical genetics from the standpoint of understanding the classification as well as in understanding the genetic etiologies, which are often due to single gene mutations [peds.ufl.edu]

Introduction A congential malformation of the hand Three forms exist preaxial polydactlyly thumb duplication postaxial polydactlyly small finger duplication central polydactlyly Preaxial Polydactyly (Thumb Duplication) Epidemiology incidence 1 per 1,000 [orthobullets.com]

Clinical, genetic and epidemiological studies. J Neurol Sci 9:479–513 Google Scholar Maliphant RG (1948) Gynatresia: Report of three uncommon clinical types. [link.springer.com]

[…] amputate before 1 year of age indications Type B Central Polydactyly Epidemiology commonly associated with syndactyly extra digit may lead to angular deformity or impaired motion Treatment osteotomy and ligament reconstructions indications perform early to prevent [orthobullets.com]