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Ulnar Mammary Syndrome


Presentation

  • DISCUSSION Ulnar-mammary syndrome (UMS) was first described in 1975 by McKusick. 1 UMS presents with high variability, and typically with asymmetric presentation.[ncbi.nlm.nih.gov]
  • We present one three generation family in which the proband has absence of the right ulna and third, fourth and fifth rays in her right hand.[ncbi.nlm.nih.gov]
  • Abstract We present a large Turkish family with autosomal dominant inherited ulnar-mammary syndrome in which 10 affected family members, spanning three generations, were diagnosed.[ncbi.nlm.nih.gov]
  • We describe a family affected by Ulnar-Mammary syndrome (UMS) in which typical UMS traits (hypoplasia of the breast and axillary hair, upper limbs and genital defects) are present together with cardiac malformations and pulmonary stenosis.[ncbi.nlm.nih.gov]
  • TBX3 independently recognizes the two binding sites present in the palindromic DNA duplex, whereas in Xbra, binding to the palindrome is stabilized through interactions between the two monomers.[ncbi.nlm.nih.gov]
Euthyroid
  • Hormonal testing revealed euthyroid hyperthyrotropinemia (TSH   14.1 mU/L, n.v. 0.27–4.0, FT4   17.9 pmol/L, n.v. 11.5–24.5) with negative anti-thyroid antibodies and without signs of thyroiditis on ultrasound.[ncbi.nlm.nih.gov]
Ptosis
  • People with DA5 frequently also have weak or sagging eyelids (ptosis). Trismus Pseudo-Camptodactyly (TPC or DA7) Trismus Pseudo-Camptodactyly (TPC) is characterized by contractures of the muscles that control opening of the mouth.[depts.washington.edu]
Withdrawn
  • At 18 years, he presented with a Tanner stage P5G5A1, and the gonadotropin treatment was withdrawn ( Fig. 2E and F ).[ncbi.nlm.nih.gov]
Delayed Menarche
  • She reported delayed menarche (at 13.9 years). Kidney, ovary and uterus abnormalities were ruled out by transabdominal US. The circulating TSH was 4.42 mU/L with normal FT4 (13.7 pmol/L) and negative anti-thyroid antibodies.[ncbi.nlm.nih.gov]
Urinary Incontinence
  • He previously underwent cerebral and spinal magnetic resonance imaging (MRI) for urinary incontinence that besides syringomyelia ( Fig. 1C ) showed pituitary gland hypoplasia ( Fig. 3A ), a thin pituitary stalk ( Fig. 3A and B ) and skull base dysmorphism[ncbi.nlm.nih.gov]

Workup

  • In addition, TBX3 may be involved in the development of the hypothalamic-pituitary axis, so brain imaging and hormone testing should be included in the workup of a patient. 3 Treatment depends on the severity of the patient's condition and can include[ncbi.nlm.nih.gov]
Dyslipidemia
  • Results Clinical reports Family A A 14-year-old boy (III-1, Figs 1A and 2A, B, C, D and E ) was referred for endocrine evaluation because of delayed puberty, micropenis (3 cm stretched length), dyslipidemia and obesity (BMI 31.2 kg/m 2, 95th percentile[ncbi.nlm.nih.gov]

Treatment

  • Rapidly consult with trusted authorities thanks to new expert-opinion treatment strategies and recommendations. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography.[books.google.com]
  • Ulnar-mammary syndrome: clinical presentation, genetic underpinnings, diagnosis, and treatment. Eplasty. 2014; 14:ic35.[invitae.com]
  • If your child has been diagnosed with UMS, talk with their doctor about all treatment options. Meeting with a genetic counselor may be helpful to determine who else in the family is at risk for this condition.[diseaseinfosearch.org]
  • Treatment - Ulnar-mammary syndrome Not supplied. Resources - Ulnar-mammary syndrome Not supplied.[checkorphan.org]
  • At 18 years, he presented with a Tanner stage P5G5A1, and the gonadotropin treatment was withdrawn ( Fig. 2E and F ).[ncbi.nlm.nih.gov]

Prognosis

  • Prognosis - Ulnar-mammary syndrome Not supplied. Treatment - Ulnar-mammary syndrome Not supplied. Resources - Ulnar-mammary syndrome Not supplied.[checkorphan.org]
  • Prognosis Half of all reported patients were deceased at the time of the initial report. 20% died in the first year, another 17% in the second year and 13% between 2 and 10 years of age.[atlasgeneticsoncology.org]

Etiology

  • Etiology unknown. Autosomal dominant inheritance. Bibliography P. D. Pallister, J. Herrmann, J. M. Opitz: Studies of malformation syndromes in man XXXXII: A pleiotropic dominant mutation affecting skeletal, sexual and apocrine-mammary development.[whonamedit.com]

Epidemiology

  • Relevant External Links for TBX3 Genetic Association Database (GAD) TBX3 Human Genome Epidemiology (HuGE) Navigator TBX3 Atlas of Genetics and Cytogenetics in Oncology and Haematology: TBX3 No data available for Genatlas for TBX3 Gene Structure of the[genecards.org]
Sex distribution
Age distribution

Prevention

  • Prevention - Ulnar-mammary syndrome Not supplied. Diagnosis - Ulnar-mammary syndrome The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Pallister-Ulnar mammary syndrome.[checkorphan.org]
  • No specific treatment is available; management is generally supportive and preventive. 0001460 Areflexia Absent tendon reflexes 0001284 Cerebellar hypoplasia Small cerebellum Underdeveloped cerebellum Last updated: 3/23/2011 If you need medical advice[rarediseases.info.nih.gov]
  • Consistent with the domain requirements for interactions, ΔRD1, exon7 missense mutation, or C-terminal deletions prevented Tbx3 splicing inhibition ( Figure 3B : lanes 4–8).[ncbi.nlm.nih.gov]
  • In affected males, surgery may be performed to move undescended testes into the scrotum (orchiopexy) and attach them in a fixed position to prevent retraction.[rarediseases.org]
  • Marshfield, WI 54449, USA (Note : for Links provided by Atlas : click ) Other names Schinzel-Giedion syndrome Atlas_Id 10129 Genes implicated in SETBP1 Note The use of the long form of the name, Schinzel-Giedion midface retraction syndrome, is preferred to prevent[atlasgeneticsoncology.org]

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