منابع مشابه
BMPR1B mutation causes Pierre Robin sequence
BACKGROUND We investigated a large family with Pierre Robin sequence (PRS). AIM OF THE STUDY This study aims to determine the genetic cause of PRS. RESULTS The reciprocal translocation t(4;6)(q22;p21) was identified to be segregated with PRS in a three-generation family. Whole-genome sequencing and Sanger sequencing successfully detected breakpoints in the intragenic regions of BMRP1B and G...
متن کاملEarly communication intervention with young children with Pierre Robin sequence.
Young children with Pierre Robin sequence are at considerable risk to develop delayed or disordered communication development. This study investigated the effectiveness of early communication intervention with four young children with Pierre Robin sequence, aged 5 to 28 months. The Proportional Change Index (Wolery, 1983) was used to determine the amount of child progress that took place during...
متن کاملPierre Robin sequence: a "Stickler" situation?
HISTORY OF PRESENT ILLNESS The patient was born to a healthy gravida 2, para 2, 27-year-old woman. There was no intrauterine exposure to medications, alcohol, recreational drugs, or tobacco. The infant was delivered vaginally at 38 weeks’ gestation in a local hospital. Her statistics at birth were as follows: weight, 3.58 kg (25th to 50th percentile); length, 51 cm (50th percentile); head circu...
متن کاملPierre Robin sequence and obstructive sleep apnea.
The case of a 12-year-old female patient with Pierre Robin sequence is reported, in which reduction of the pharyngeal airway leads to obstructive sleep apnea syndrome (OSAS) and excessive daytime sleepiness. Radiological evaluation, computerized tomography and magnetic resonance image showed bilateral temporomandibular ankylosis. Cephalometric data evidenced marked reduction of the posterior ai...
متن کاملCervico-thoracic kyphosis in a girl with Pierre Robin sequence
Congenital cervico-thoracic kyphosis has been encountered in a girl with Pierre Robin sequence. The constellation of the spine malformation complex such as incomplete development of the vertebral bodies associated with defective ossification of the cervico-thoracic pedicles causing effectively the development of complete spinal cord injury at the kyphotic level of C7/T1 were present. Congenital...
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ژورنال
عنوان ژورنال: CHRISMED Journal of Health and Research
سال: 2017
ISSN: 2348-3334
DOI: 10.4103/2348-3334.201998