The above story is the classic presentation of a cyanotic breath holding spell. The child experience an adverse stimuli that makes them angry or upset and they start crying. When they cry, they stop breathing on expiration. They become cyanotic and loss consciousness. They may shake and their eyes may roll back in their head. On awakening they are normal with no neurological sequelae. They may be tired afterwards and sleep. Because this is a cyanotic episode it is best to leave the child lying on the ground to allow the blood to circulate back to their head. It is obviously difficult for a parent to resist the instinct to immediatly pick up their child but they will revive faster if left lying down. Pallid breath holding spells involve the child turning white instead of cyanotic and are usualy caused by frightening experiences. Syncope usually occurs when in a upright posture so is unlikely if the child is sitting on the ground. Grand mal seizure is possible but given the story is less likely especially since the child was back to normal after the episode.

Simple febrile seizures are familial. Therefore, it is helpful to inquire about family history in the parents and siblings. If grandparents are present it is sometimes helpful to ask them as well, since their children were probably too young to remember that it happened. The mode of inheritance is believed to be autosomal dominant with incomplete penetrance.

Although vision should be monitored in all patients. It is actually their hearing which is of particular concern (more than half of all Turner Syndrome women over 35 years suffer from conductive hearing loss). All the other mentionned conditions are also potential health issues that are common among patients with Turner syndrome.

Beckwith-Wiedemann Syndrome has the clinical features of macroglossia, omphalocele, macrosomia and ear creases.
The macrosomia is usually associated with large muscle mass and think subcutaneous tissue. In addition to the macroglossia, facial features can also include prominant eyes and a relative infrorbital hypoplasia. The ear creases appear as linear fissures in the lobe of the ear. These babies often have visceromegaly and pancreatic hyperplasia which can have lead to hyperinsulinism and hypoglycemia in about 1/3 to 1/2 of cases. The can have omphaloceles or other umbilical abnormalities.
Tumours can be found in about 6-7% of these children with Wilm's tumours and hepatoblastoma being the most common and more commonly associated with children in whom hemihypertrophy present. Screening kidney ultrasounds and serum alpha fetoprotein are recommended. Although the syndrome is usually sporadic, 10-15% of the cases can be an autosomal dominant inheritance with a predominantly maternal transmission. This syndrome is known to be caused by differences in the normal dosage balance of genes around 11p15.

A good way to remember some of this info when examining a newborn:
OMG!
O-Omphalocele
M-Macroglossia
G-low Glucose

CVS is performed at 10-12 weeks of pregnancy and is therefore not appropriate for a 16 week pregnant woman.

The inability to use NADH leads to its accumulation. Because of the increase of NADH, the lactate pyruvate equilibrium is shifted in favor of lactate. Thus lactic acidosis is common.