TS is also characterized by congenital lymphedema of feet and hands, short stature, low posterior hairline, widely spaced nipples, and primary amenorrhea. TS was initially described as a triad of cubitus valgus, infantilism, and facial features including a short, broad neck with webbing, low-set ears, and down-slanted palpebral fissures with epicanthal folds. TS is a complex medical disorder characterized by physical, psychological, and oral features. While in mosaicism, parts of the body have normal cells with two X chromosomes (46XX), while others have one X chromosome missing (45X). In TS, girls either miss one X chromosome (45X) or a part of it.
WEBBED NECK SYNDROME PLUS
Turner's patients typically have 44 autosomes plus one X chromosome. Women have two complete X chromosomes when they are born. The human genome has 46 chromosomes, including 22 pairs of autosomes and the X and Y chromosomes. In addition, there was bilateral non-pitting edema of feet extending up to ankles, webbed neck, wide-spaced nipples, an extra thin peduncle-like appendage on the right hand, cubital valgus, and a small lower jaw (Figure 1). She was active, with intact sucking, moro, and grasping reflexes. The baby had normal vitals with a birth weight of 2.7 kg and 48 cm height on physical examination. When taking a family history, it was revealed that the parents had a consanguineous marriage. No family member had similar facial features.
There was no history of fetal distress, delayed crying, lethargy, feeding difficulty, fever, or fits, no family history of recurrent miscarriages, infantile deaths, or any genetic diseases. The mother's antenatal scans were normal.
Medical history revealed that she was born via emergency cesarean section at the 38th week due to decreased fetal movements, but there was no complication during or after delivery. Case PresentationĪn eight-day-old female neonate was referred to the outpatient department of neonatology at the Indus Hospital & Health Network, Karachi, Pakistan, with the complaint of dysmorphic features and edema of both feet since birth.
Īn eight-day-old neonate who was presented with typical TS features has been reported here. However, the pattern and time of onset of growth and development deficiency are undetermined. Infants with TS have a high rate of growth failure at birth. Gonadal dysgenesis and decreased growth are classical features in TS many other organ systems are also affected by varying patterns and at different periods of life. The clinical manifestation of TS can range widely among the affected individuals. It is characterized by a combination of physical and cytogenetic features. Unfortunately, only 20% of cases are diagnosed at birth, and the rest are identified during childhood or prepubertal stages. In 98% of cases, it is widely associated with spontaneous abortions, while the conditions affect approximately 1 in 2000 to 2500 live female birth. In 45% of cases, it is due to 45XO monosomy, while in other cases, it is caused by a chromosomal abnormality or mosaicism of 45X. TS is one of the most common disorders caused by chromosomal aneuploidy. In 1959, it was identified that the disease is caused by monosomy or structural defects of the X chromosome. He named the condition Turner syndrome (TS). Henry Turner, distinguished several cases of similar appearance, that is, women with short stature, webbing of neck, cubitus valgus, and sexual infantilism.
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