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Toxic levels of chloramphenicol after 2–9 days result in:
- Loss of appetite
- Vomiting
- Ashen gray color of the skin
- Hypotension (low blood pressure)
- Cyanosis (blue discolouration of lips and skin)
- Hypothermia
- Cardiovascular collapse
- Hypotonia
- Abdominal distension
- Irregular respiration
- Increased blood lactate
Gray baby syndrome (also termed Gray or Grey syndrome) is a rare but serious side effect that occurs in newborn infants (especially premature babies) following the accumulation of antibiotic chloramphenicol.
Pregnancies that have a foetus affected with this syndrome are complicated because of polyhydramnion. Complications arise because of opaque amnionic fluid resulting from the shedding of skin. As a result, ultrasounds are difficult to conduct. Triggered by the harsh environment in the uterus, delivery results around 30– 34 weeks of gestation (pregnancy) and the baby is born in prematurely.
The symptoms associated with the disorder are often confused for other dermatological disorders. The symptoms below are ones specifically associated with IPS.
Although confirmation of a specific genetic marker is in a significant number of individuals, there are no tests to clearly determine if this is what a person has. As a 'syndrome' a diagnosis is typically given for children upon confirmation of the presence of several 'symptoms' listed below. Symptoms are Intrauterine Growth Restriction (IUGR) combined with some of the following:
- Often small for gestational age (SGA) at birth (birth weight less than 2.8 kg)
- Feeding problems: the baby is uninterested in feeding and takes only small amounts with difficulty
- Hypoglycemia
- Excessive sweating as a baby, especially at night, and a greyness or pallor of the skin. This may be a symptom of hypoglycemia
- Triangular shaped face with a small jaw and a pointed chin that tends to lessen slightly with age. The mouth tends to curve down
- A blue tinge to the whites of the eyes in younger children
- Head circumference may be of normal size and disproportionate to a small body size
- Wide and late-closing fontanelle
- Clinodactyly
- Body asymmetry: one side of the body grows more slowly than the other
- Continued poor growth with no "catch up" into the normal centile lines on growth chart
- Precocious puberty (occasionally)
- Low muscle tone
- Gastroesophageal reflux disease
- A striking lack of fat
- Late closing of the opening between the heart hemispheres
- Constipation (sometimes severe)
The average adult height for patients without growth hormone treatment is 4'11" for males and 4'7" for females.
The condition gets its name because most, though not all, affected foals are born with a unique coat color dilution that lightens the tips of the coat hairs, or even the entire hair shaft. The color has variously been described as a silver sheen, a dull lavender, a pale, dull pinkish-gray, or pale chestnut. This dilution differs from gray foals because grays are born a dark color and lighten with age. It is also different from roan, because the hair is of a uniform shade, not of intermingled light and dark hairs.
Foals with LFS are unable to stand, and sometimes cannot even attain sternal recumbency (to roll from their side to lie upright, resting on the sternum, a precursor position to standing). They may lie with their necks arched back (Opisthotonos), make paddling motions with their legs, and often have seizures. extensor rigidity and seizure activity are also common signs. Apparent blindness may also be a clinical sign of the disorder, but is not seen in every case. Although they do have a sucking reflex, they cannot stand to nurse, and affected foals are usually euthanized within a few days of birth. There is no cure. In some cases, the mare may also have difficulty foaling, though foaling difficulties are not the cause of the condition. In some cases, LFS-affected foals may be larger than usual.
LFS is distinguishable from Neonatal Maladjustment Syndrome (NMS) or "Dummy Foal Syndrome".
Cross–McKusick–Breen syndrome (also known as "Cross syndrome", "hypopigmentation and microphthalmia", and "oculocerebral-hypopigmentation syndrome") is an extremely rare disorder characterized by white skin, blond hair with yellow-gray metallic sheen, small eyes with cloudy corneas, jerky nystagmus, gingival fibromatosis and severe mental and physical retardation.
It was characterized in 1967.
Silver–Russell syndrome (SRS), also called Silver–Russell dwarfism or Russell–Silver syndrome (RSS) is a growth disorder occurring in approximately 1/50,000 to 1/100,000 births. In the United States it is usually referred to as Russell–Silver syndrome, and Silver–Russell syndrome elsewhere. It is one of 200 types of dwarfism and one of five types of primordial dwarfism and is one of the few forms that is considered treatable in some cases.
There is no statistical significance of the syndrome occurring preferentially in either males or females.
Postmaturity symptoms vary. The most common are dry skin, overgrown nails, creases on the baby's palms and soles of their feet, minimal fat, abundant hair on their head, and either a brown, green, or yellow discoloration of their skin. Doctors diagnose post-mature birth based on the baby's physical appearance and the length of the mother's pregnancy. However, some postmature babies may show no or few signs of postmaturity.
Lavender foal syndrome (LFS), also called coat color dilution lethal (CCDL), is an autosomal recessive genetic disease that affects newborn foals of certain Arabian horse bloodlines. Affected LFS foals have severe neurological abnormalities, cannot stand, and require euthanasia shortly after birth. The popular name originates due to a diluted color of the foals coat, that in some cases appears to have a purple or lavender hue. However, not all foals possess the lavender coat colour, colouring can range from silver to light chestnut to a pale pink. Carrier horses have no clinical signs and DNA testing can determine if a horse carries the gene.
Michelin tire baby syndrome (also known as "Folded skin with scarring"), is characterized by multiple, symmetric, circular skin creases, or bands, on the forearms, lower legs, and often the neck that are present at birth. The creases disappear later in life. But it is a dangerous skin disease as it resides in the body rest of life, it can lead to death. They are reminiscent of those of Bibendum, the mascot of the tire manufacturer, Michelin, hence the name of the syndrome. Associated abnormalities vary and may include facial dysmorphism, upslanting palpebral fissures, hypertelorism, cleft palate, genital anomalies, mild developmental delay, ureterocele, smooth muscle hamartoma, nevus lipomatosus, Laron syndrome (dwarfism with high growth hormone and low somatomedin activity), and other defects.
It was originally described by Ross in 1969.
Twenty cases of this disorder have been reported.
Sometimes babies born with choanal atresia also have other abnormalities:
- coloboma
- heart defects
- mental retardation
- growth impairment
- others (see also CHARGE syndrome)
Also any condition that causes significant depression of the nasal bridge or midface retraction can be associated with choanal atresia. Examples include the craniosynostosis syndromes such as Crouzon syndrome, Pfeiffer syndrome, Treacher Collins and Antley-Bixler syndrome.
In medicine, the term collodion baby applies to newborns who appear to have an extra layer of skin (known as a "collodion membrane") that has a collodion-like quality. It is a descriptive term, not a specific diagnosis or disorder (as such, it is a syndrome).
A breech birth occurs when a baby is born bottom first instead of head first. Around 3-5% of pregnant women at term (37–40 weeks pregnant) will have a breech baby.
Most babies in the breech position are born by a caesarean section because it is seen as safer than being born vaginally.
As most breech babies are delivered by caesarean section in developed countries, doctors and midwives may lose the skills required to safely assist women giving birth to a breech baby vaginally. Delivering all breech babies by caesarean section in developing countries may be very difficult to implement or even impossible as there are not always resources available to provide this service.
Affected babies are born in a collodion membrane, a shiny, waxy-appearing outer layer to the skin. This is shed 10–14 days after birth, revealing the main symptom of the disease, extensive scaling of the skin caused by hyperkeratosis.
With increasing age, the scaling tends to be concentrated around joints in areas such as the groin, the armpits, the inside of the elbow and the neck. The scales often tile the skin and may resemble fish scales.
Characteristic injuries associated with AHT include retinal bleeds, multiple fractures of the long bones, and subdural hematomas (bleeding in the brain). These signs have evolved through the years as the accepted and recognized signs of child abuse. Medical professionals strongly suspect shaking as the cause of injuries when a young child presents with retinal bleed, fractures, soft tissue injuries or subdural hematoma, that cannot be explained by accidental trauma or other medical conditions.
Retinal bleeds occur in around 85% of AHT cases; the type of retinal bleeds are particularly characteristic of this condition, making the finding useful in establishing the diagnosis. While there are many other causes of retinal bleeds besides AHT, there are usually additional findings (eyes or systemic) which make the alternative diagnoses apparent.
Fractures of the vertebrae, long bones, and ribs may also be associated with AHT. Dr. John Caffey reported in 1972 that metaphyseal avulsions (small fragments of bone had been torn off where the periosteum covering the bone and the cortical bone are tightly bound together) and "bones on both the proximal and distal sides of a single joint are affected, especially at the knee".
People after AHT may display irritability, failure to thrive, alterations in eating patterns, lethargy, vomiting, seizures, bulging or tense fontanels (the soft spots on a baby's head), increased size of the head, altered breathing, and dilated pupils.
It can be unilateral or bilateral.
- Sometimes, a unilateral choanal atresia is not detected until much later in life because the baby manages to get along with only one nostril available for breathing.
- Bilateral choanal atresia is a very serious life-threatening condition because the baby will then be unable to breathe directly after birth as babies are obligate nasal breathers (they mainly use their noses to breathe). In some cases, this may present as cyanosis while the baby is feeding, because the oral air passages are blocked by the tongue, further restricting the airway. The cyanosis may improve when the baby cries, as the oral airway is used at this time. These babies may require airway resuscitation soon after birth.
In the beginning, medical officials defined ABCD syndrome by the four key characteristics of the syndrome. In the first case study of the Kurdish girl, researches described her as having "albinism and a black lock at the right temporo-occipital region along Blaschko lines, her eyelashes and brows were white, the irises in her eyes appeared to be blue, she had spots of retinal depigmentation, and she did not react to noise." The albinism is interesting in this diagnosis because the skin of an affected individual is albino pale besides the brown patches of mispigmented skin. The "black locks" described and seen in clinical pictures of the infants are thick patches of black hair above the ears that form a half circle reaching to the other ear to make a crest shape.
As identified in this first case study and stated in a dictionary of dermatologic syndromes, ABCD syndrome has many notable features, including "snow white hair in patches, distinct black locks of hair, skin white except brown macules, deafness, irises gray to blue, nystagmus, photophobia, poor visual activity, normal melanocytes in pigmented hair and skin, and absent melanocytes in areas of leukoderma." Individuals have the blue/gray irises typical of people affected by blindness. The C of ABCD syndrome is what distinguishes this genetic disorder from BADS and it involves cell migration disorder of the neurocytes of the gut. This characteristic occurs when nerve cells do not function correctly in the gut, which results in aganglionosis: The intestines’ failure to move food along the digestive tract. Deafness or being unresponsive to noise due to very low quality of hearing was reported in every case of ABCD syndrome. The characteristics of ABCD syndrome are clearly evident in an inflicted individual.
No longer considered a separate syndrome, ABCD syndrome is today considered to be a variation of Shah-Waardenburg type IV. Waardenburg syndrome (WS) is described as "the combination of sensorineural hearing loss, hypopigmentation of skin and hair, and pigmentary disturbances of the irides." Hearing loss and deafness, skin mispigmentation and albinism, and pigmentary changes in irises are the similarities between WS and ABCD. According to a dictionary of dermatologic syndromes, Waardenburg syndrome has many notable features, including "depigmentation of hair and skin – white forelock and premature graying of hair, confluent thick eyebrows, heterochromic irides or hypopigmentation of iris, laterally displaced inner canthi, congenital sensorineural deafness, broad nasal root, autosomal dominant disorder, and other associated findings, including black forelocks."
Trichomegaly is a congenital condition in which the eyelashes are abnormally long, greater than 12mm in the central area and 8mm in the peripheral. The term was first used by H. Gray in 1944 in a publication in the Stanford Medical Bulletin, though he was only the third person to characterize the disorder; the first two reports were published in German in 1926 and 1931 by Reiter and Bab, respectively. Gray suggested the use of the term "movie lashes" to describe this condition, for long lashes were at the time being portrayed in film as a desirable characteristic in women.
ABCD syndrome is the acronym for albinism, black lock, cell migration disorder of the neurocytes of the gut, and sensorineural deafness. It has been found to be caused by mutation in the endothelin B receptor gene (EDNRB).
Large for gestational age (LGA) is an indication of high prenatal growth rate.
LGA is often defined as a weight, length, or head circumference that lies above the 90th percentile for that gestational age. However, it has been suggested that the definition be restricted to infants with birth weights greater than the 97th percentile (2 standard deviations above the mean) as this more accurately describes infants who are at greatest risk for perinatal morbidity and mortality.
Macrosomia, which literally means "long body", is sometimes confused with LGA. Some experts consider a baby to be big when it weighs more than at birth, and others say a baby is big if it weighs more than . A baby is also called “large for gestational age” if its weight is greater than the 90th percentile at birth.
McGillivray syndrome is a very rare syndrome which is also known as a Craniosynostosis. It is characterized mainly by heart defects, skull and facial abnormalities and ambiguous genitalia. The symptoms of this syndrome are ventricular septal defect, patent ductus arteriosus, small jaw, undescended testes, and webbed fingers. Beside to these symptoms there are more symptoms which is related with bone structure and misshape.
McGillivray syndrome is a birth defect in which one or more of the joints between the bones of your baby's skull close prematurely, before your baby's brain is fully formed. When your baby has craniosynostosis, his or her brain cannot grow in its natural shape and the head is misshapen. It can affect one or more of the joints in your baby's skull. In some cases, craniosynostosis is associated with an underlying brain abnormality that prevents the brain from growing properly. Treating McGillivray usually involves surgery to separate the fused bones. If there is no underlying brain abnormality, the surgery allows baby’s brain to grow and develop in adequate space.
Postterm pregnancy is the condition of a baby that has not yet been born after 42 weeks of gestation, two weeks beyond the normal 40. Post-mature births can carry risks for both the mother and the infant, including fetal malnutrition. After the 42nd week of gestation, the placenta, which supplies the baby with nutrients and oxygen from the mother, starts aging and will eventually fail. If the fetus passes its fecal matter, which is not typical until after birth, and breathes it in, it could become sick with meconium aspiration syndrome. Postterm pregnancy may be a reason to induce labor.
Sudden infant death syndrome (SIDS), also known as cot death or crib death, is the sudden unexplained death of a child less than one year of age. Diagnosis requires that the death remains unexplained even after a thorough autopsy and detailed death scene investigation. SIDS usually occurs during sleep. Typically death occurs between the hours of 00:00 and 09:00. There is usually no evidence of struggle and no noise produced.
The exact cause of SIDS is unknown. The requirement of a combination of factors including a specific underlying susceptibility, a specific time in development, and an environmental stressor has been proposed. These environmental stressors may include sleeping on the stomach or side, overheating, and exposure to tobacco smoke. Accidental suffocation from bed sharing (also known as co-sleeping) or soft objects may also play a role. Another risk factor is being born before 39 weeks of gestation. SIDS makes up about 80% of sudden and unexpected infant deaths (SUIDs). Other causes include infections, genetic disorders, and heart problems. While child abuse in the form of intentional suffocation may be misdiagnosed as SIDS, this is believed to make up less than 5% of cases.
The most effective method of reducing the risk of SIDS is putting a child less than one year old on their back to sleep. Other measures include a firm mattress separate from but close to caregivers, no loose bedding, a relatively cool sleeping environment, using a pacifier, and avoiding exposure to tobacco smoke. Breastfeeding and immunization may also be preventive. Measures not shown to be useful include positioning devices and baby monitors. Evidence is not sufficient for the use of fans. Grief support for families affected by SIDS is important, as the death of the infant is sudden, without witnesses, and often associated with an investigation.
Rates of SIDS vary nearly tenfold in developed countries from one in a thousand to one in ten thousand. Globally it resulted in about 19,200 deaths in 2015 down from 22,000 deaths in 1990. SIDS was the third leading cause of death in children less than one year old in the United States in 2011. It is the most common cause of death between one month and one year of age. About 90% of cases happen before six months of age, with it being most frequent between two months and four months of age. It is more common in boys than girls.
The most obvious sign that meconium has been passed during or before labor is the greenish or yellowish appearance of the amniotic fluid. The infant's skin, umbilical cord, or nailbeds may be stained green if the meconium was passed a considerable amount of time before birth. These symptoms alone do not necessarily indicate that the baby has inhaled in the fluid by gasping in utero or after birth. After birth, rapid or labored breathing, cyanosis, slow heartbeat, a barrel-shaped chest or low Apgar score are all signs of the syndrome. Inhalation can be confirmed by one or more tests such as using a stethoscope to listen for abnormal lung sounds (diffuse 'wet' crackles and rhonchi), performing blood gas tests to confirm a severe loss of lung function (respiratory acidosis as a consequence of hypercapnia), and using chest X-rays to look for patchy or streaked areas on the lungs. Infants who have inhaled meconium may develop respiratory distress syndrome often requiring ventilatory support. Complications of MAS include pneumothorax and persistent pulmonary hypertension of the newborn.