Treacher Collins Syndrome

Antimongoloid Slant

Marked micrognathia in an infant with Treacher-Collins syndrome mandibulofacial dysostosis . In addition to the micrognathia, note the antimongoloid slant of the eyes, prominent nose, and malar hypoplasia. Figure 1.157. Marked micrognathia in an infant with Treacher-Collins syndrome mandibulofacial dysostosis . In addition to the micrognathia, note the antimongoloid slant of the eyes, prominent nose, and malar hypoplasia.

Infant Hemifacial Microsomia

Newborn Microsomia

Micrognathia in an infant with Goldenhar's syndrome hemifacial microsomia . In addition, note the preauricular skin tags, unilateral macrostomia, and skin tags due to the extra branchial arch anomalies. Figure 1.158. Micrognathia in an infant with Goldenhar's syndrome hemifacial microsomia . In addition, note the preauricular skin tags, unilateral macrostomia, and skin tags due to the extra branchial arch anomalies. Figure 1.159. A congenital midline cervical cleft is a rare...

Hair At Lower End Of Spinal Cord In Newborn

Lumbosacral Hair

A cervical meningocele may be difficult to differentiate from an occipital encephalocele. Further study in this infant showed that this was a cervical meningocele. Figure 3.57. A cervical meningocele may be difficult to differentiate from an occipital encephalocele. Further study in this infant showed that this was a cervical meningocele. Figure 3.58. A midline hair tuft in the lumbosacral area. This infant had a tethered cord on MRI study. Hair tufts, skin tags, sinuses, and...

Frog Leg Position Infants

Brain Tumor Infant

A CT scan of an infant with a grade II PVH-IVH. There is blood within the lateral ventricles without ventricular dilatation. Figure 3.105. A CT scan of an infant with a grade III PVH-IVH. There is blood within the dilated lateral ventricles. Figure 3.106. A CT scan of an infant with a grade IV PVH-IVH. Note the blood within the lateral ventricles and extension into the cerebral parenchyma. Figure 3.107. This term infant presented with marked increase in head size fronto-occipital...

Tethered Spinal Cord Images

Tethered Cord

In this infant with a f9 lipomeningocele with a tethered cord, note the associated skin discoloration with a small skin tag. Figure 3.82. A lipomeningocele with an associated sinus tract is present in this infant. Figure 3.83. Infant with a large dermal sinus tract associated with cord tethering and spinal dysraphism. On MRI there was a tethered cord and spina bifida both above and below the lesion. Figure 3.84. Small finger-like dermal tag extending from the mid-line of the back...

Charge Syndrome Retina

Charge Syndrome

This is another term infant with severe bilateral microphthalmia. The globes are small, and vision is extremely poor. There are several forms of microphthalmia including those associated with congenital infection, chromosomal abnormalities, and the CHARGE syndrome. Figure 2.47. At term birth, the normal ocular sagittal length is 17.5 mm, and the normal corneal diameter is 10 mm. This is a term infant with very severe bilateral microphthalmia. The globes are virtually absent and the...

Images Of An Infants Gum Ridge

Epstein Pearls Gums

Gum hypertrophy in an infant born to a mother treated with phenytoin during pregnancy. Figure 1.91. The components for each individual tooth bud can often be seen on the alveolar ridges of the maxilla and mandible in normal infants. Note the milia on the nose and the demarcation on the lip where the skin meets the mucous membrane. The sucking calluses occur on the mucous membrane part of the lip and are most prominent on the central portion. Figure 1.92. Gum hypertrophy in an...

Conjunctival Lipodermoid

Neonatal Lid Retraction

The same patient showing a residual right upper lid ectropion after five days of bilateral pressure patches. If this occurs as a unilateral condition, it is essential to tape both eyes closed to prevent deprivation amblyopia. Figure 2.41. Congenital ectro-pion occurs as a result of intrauterine prolapse of the conjunctiva. This may require temporary taping or suturing of the lid margins. In the absence of microphthalmos, buphthalmos, or eyelid defects, primary eyelid eversion is...

Beckwith Wiedemann Syndrome

Beckwith Wiedemann Syndrome

Transverse earlobe creases are a feature of some syndromes as in this infant with Beckwith-Wiedemann syndrome. Figure 1.140. This otherwise normal infant had bilateral cleft ear lobes. This occurs as a result of incomplete fusion between the most medial embryonic hillocks. Figure 1.140. This otherwise normal infant had bilateral cleft ear lobes. This occurs as a result of incomplete fusion between the most medial embryonic hillocks. Figure 1.139. Transverse earlobe creases are a...

Myotonic Dystrophy Newborn

Gracile Syndrome

Right hand of the same infant with amyotonia congenita. Note the lack of finger creases and the abnormal appearance of the hand due to lack of intrauterine fetal movement. Finger creases normally develop at 11 to 12 weeks gesta-tional age. Figure 3.117. In this male infant with myotonic dystrophy, note the marked hypotonia, cryptorchidism, and clubfoot. Figure 3.118. The face of the same infant as shown in Figure 3.117 shows the typical lack of expression and the bilateral ptosis...

Amniotic Band Syndrome Photos

Amniotic Band

Encephaloceles may occur at any midline point in the skull and result from failure of the neuroecto-dermal axis to develop normally. This results in bony defects of the skull with protrusion of the meninges which may contain neural tissue. They are most common in the occipital area. The prognosis is better if the rest of the skull is normal and there is no hernia-tion of neural tissue. Figure 3.39. Encephaloceles may occur at any midline point in the skull and result from failure...

Retinal Hemorrhage In Newborns

Retinal Hemorrhage Neonate

Retinal hemorrhages occur frequently in the neonate, especially following vaginal delivery. In some studies, the incidence of small retinal hemorrhages is as high as 25 irrespective of whether the delivery was spontaneous or required the application of forceps. These retinal hemorrhages resolve spontaneously without any consequences. In contrast, hemorrhages into the vitreous gel may prevent light from getting through to the retina for several days or even weeks and will cause a...