Ulnar-mammary syndrome.

نویسنده

  • A Schinzel
چکیده

In 1975, McKusick1 first mentioned a syndrome of ulnar ray defects and genital abnormalities, citing a personal communication from A Schinzel (1973), and named it 'Schinzel syndrome' (McKusick No 18145) in this and in all subsequent editions of his catalogue.2 One year later, Pallister et a13 and Gonzales et a14 described the same syndrome in two families, and the latter authors named the syndrome 'ulnar-mammary syndrome type Pallister'. McKusick5 adopted this name in his catalogue from 1978 (McKusick No 19145), and since the fifth edition, both codes are found separately in Mendelian inheritance in man. Gonzales et a14 found a paper from the 19th century in which another woman with possibly the same syndrome was described.6 Temtamy and McKusick presented findings and photographs of Schinzel's family in their book Genetics of hand malformations and a

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Prevalence of Concurrent Disorders of Ulnar Nerve Entrapment at the Elbow and Carpal Tunnel Syndrome Ahvaz Imam Khomeini Hospital During 2009 to 2012

Carpal tunnel syndrome (CTS) is the most well-known and frequent form of median nerve entrapment, and accounts for 90% of all entrapment neuropathies. Entrapment neuropathies of the ulnar nerve are relatively common with ulnar neuropathy at the elbow more prevalent than ulnar neuropathy at the wrist. The diagnosis of ulnar neuropathy at the elbow is usually confirmed in a relatively straight – ...

متن کامل

Mouse Tbx3 Mutants Suggest Novel Molecular Mechanisms for Ulnar-Mammary Syndrome

The transcription factor TBX3 plays critical roles in development and TBX3 mutations in humans cause Ulnar-mammary syndrome. Efforts to understand how altered TBX3 dosage and function disrupt the development of numerous structures have been hampered by embryonic lethality of mice bearing presumed null alleles. We generated a novel conditional null allele of Tbx3: after Cre-mediated recombinatio...

متن کامل

Sensitivity of the Median- Ulnar Motor Comparative Techniques in Carpal Tunnel Syndrome

ABSTRACT Carpal Tunnel Syndrome is the most common entrapment syndrome. Median-ulnar motor comparative technique with Median motor technique in carpal tunnel syndrome were studied. In 50 patients with 72 hands with clinically defined carpal tunnel syndrome and electrophysilogic evidence of Median neuropathy at wrist based upon a prolonged sensory nerve distal latency with 30 asymptomatic volu...

متن کامل

Prevalence of Concurrent Disorders of Ulnar Nerve Entrapment at the Elbow and Carpal Tunnel Syndrome Ahvaz Imam Khomeini Hospital During 2009 to 2012

Carpal tunnel syndrome (CTS) is the most well-known and frequent form of median nerve entrapment, and accounts for 90% of all entrapment neuropathies. Entrapment neuropathies of the ulnar nerve are relatively common with ulnar neuropathy at the elbow more prevalent than ulnar neuropathy at the wrist. The diagnosis of ulnar neuropathy at the elbow is usually confirmed in a relatively straight – ...

متن کامل

Report of a Rare Variation in Ulnar Nerve and its Importance in Surgery of Carpal Tunnel Syndrome

Purpose: To report a variation in ulnar nerve and its importance in carpal tunnel syndrome surgery.Case report: The case is a patient that due to pain in carpal region and parasthesia in the second and third digits of both hands had referred. In physical examination there were phalan test and tinel sign. Electromyography (EMG) and Nerve Conducting (NC) confirmed the carpal tunnel syndrome and t...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:
  • Journal of medical genetics

دوره 24 12  شماره 

صفحات  -

تاریخ انتشار 1987