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Pupil Enlargement Pictures

The affected eye of the same infant exhibits minimal corneal enlargement, clouding secondary to corneal edema, and ectropion uvea with displacement of the pupil temporally. Figure 2.70. These photographs are of the optic nerves of the patient in Figure 2.69. The optic nerves reveal asymmetrical cupping, reflecting the increased intraocular pressure in the right eye on the left and the normal intraocular pressure in the left eye on the right . Figure 2.71. The affected eye of the...

Retinavitreous

Persistent Hyperplastic Primary Vitreous

Persistent hyperplastic primary vitreous PHPV results from a failure of the embryonic hyaloid artery system to involute. In this eye, the persistence is primarily anterior with formation of a large cataract. Figure 2.88. In this eye, the PHPV is primarily posterior with the presence of a large stalk to the optic nerve. Figure 2.89. Tay-Sachs disease GM, gangliosidosis Type I is an autosomal recessive 12q22-25 disorder which develops a macular cherry-red spot due to deposition of...

Active Retinopathy of Prematurity

Retinopathy Prematurity Stage

There are three parameters to the classification system known as the International Classification of Active Retinopathy of Prematurity ICROP location of the disease zone , extent of the disease clock hours , and severity of abnormal vascular response stage . Screening for active retinopathy of prematurity should begin after 4 weeks but before 6 weeks following birth. The critical time for screening is from 32 to 42 weeks postconceptual age. Follow-up examinations vary depending on the clinical...

Introduction

Although several texts provide extensive written descriptions of the newborn infant, the senses of touch, hearing, and especially sight, create the most lasting impressions. Over a period of almost five decades, my brother Jack Rudolph diligently recorded, in pictorial form, his vast experiences in physical examination of the newborn infant. Atlas of the Newborn reflects his selection from the thousands of color slides in his collection, and truly represents the art of medicine as applied to...

How To Remove Upper Lip Wrinkles

Intermaxillary Segment

Bilateral cleft lip and cleft palate with a severe total cleft palate and incomplete bilateral cleft lip. A midline nubbin of tissue is seen attached to the col-umella of the nose. This represents the remnant of the intermaxillary segment, the unpaired median structure that normally would have formed the floor of the philtral groove, the center of the upper alveolar ridge, and the primary palate. Figure 1.121. Cleft palate in an infant with a unilateral cleft lip. Note the...

Infection Acquired

Chemical Conjunctivitis

Trachoma inclusion conjunctivitis TRIC or chlamydial conjunctivitis usually does not become clinically apparent before the 6th day of life. This shows a dense white membrane which developed over a period of a week. TRIC is one of the few infections which cause the formation of conjunctival membranes, shown on the conjunctival surface of the upper eyelid of this eye. Tetracycline and erythromycin have been used for Crede prophylaxis in some nurseries because of the increasing...

Morning Glory Syndrome

Morning Glory Disc Anomaly

A persistent and engorged tunica vasculosa lentis occurs in those infants who are very immature and develop severe active retinopathy of prematurity. Cicatricial Spontaneous Regression Retinopathy of Prematurity The anatomical macular outcome which correlates with final visual acuity is measured by two parameters macular ectopia and vessel traction. Figure 2.105. This is the grading system for macular ectopia. The normal macular position is between 2 and 3 disc diameters from the...

Ridges On Infants Head

Hydranencephaly

Transillumination of the lateral view of the head of another infant with hydranencephaly. Note the large head size compared with that of the face. Typically infants with hydranencephaly present with heads that are macro-cephalic. Infants with hydrocephalus will also have transillumination of the skull, but this would become readily apparent only if there was massive enlargement of the head. Figure 3.14. Transillumination of the lateral view of the head of another infant with...

Infant Glaucoma

End Stage Glaucoma

Aniridia with cerebellar malformation is an autosomal recessive disorder which seems to be associated with little variability in expression. On the left is a rather complete aniridia with corneal clouding due to glaucoma. On the right is another virtually complete aniridia with minimal iris remnants. Figure 2.58. Aniridia with cerebellar malformation is an autosomal recessive disorder which seems to be associated with little variability in expression. On the left is a rather...

Hydranencephaly Autopsy

Infant With Porencephalic Cysts

Transillumination of the head of the same infant with hydranencephaly. Note the jack-o-lantern appearance of the eyes indicating the lack of neural tissue behind the globe. Figure 3.18. Autopsy view of the skull of the same infant with hydranencephaly. Note the empty cranial vault with lack of development of the cerebrum. Figure 3.19. Lateral view of the head of an infant with macrocephaly due to a large porencephalic cyst.

Eyes Fused Midline

Upper Alveolar Ridge Newborn Baby

Another example of the median cleft syndrome with a normal karyotype and a head ultrasound showing holoprosencephaly. The close-up view shows clefting of the alveolar ridge which is also seen in this syndrome. Holoprosencephaly results from maldevelopment of the forebrain prosencephalon . It may occur as an alobar type in which there is a horseshoe-shaped single ventricle a semilobar type in which there is partial differentiation of the ventricles, especially at the...

Preauricular Skin

Preauricular Skin Tag

Multiple preauricular skin tags in an infant with a normal ear. Note that skin tags may be pedunculated. Figure 1.145. Preauricular skin tags in an infant with cupping of the ear. Figure 1.145. Preauricular skin tags in an infant with cupping of the ear. Figure 1.146. Preauricular skin tags and skin tags along a line connecting the oral commissure with the external auditory canal are seen in syndromes involving the first and second branchial arch, as in this infant with...

Rhizomelic Chondrodysplasia Punctata

Lowe Syndrome

This is the same patient shown in Figure 2.81 following bilateral removal of cataracts and immediate fitting with aphakic contact lenses. The infant developed perfect vision and binocular fusion. Figure 2.83. Cataracts are present in Lowe syndrome oculocerebrorenal syndrome which is an X-linked recessive disorder Xq25 . In this syndrome, glaucoma is also frequently present. Figure 2.84. In the rhizomelic chondrodysplasia punctata syndrome, an autosomal recessive disorder, cataracts...

Distended Veins In Scalp

Fetal Skull Abnormalities

Extreme hypotonia in a term infant who appears to slip through die hands of her examiner when held upright under the arms. Most term newborns can maintain the head in the same plane as the trunk when lifted by the arms or ventrally suspended. Extreme head lag is a sign of hypotonia that can be seen in infants with Down syndrome, prematurity, or brain damage. Figure 3.7. Microcephaly in a term infant with congenital rubella. Microcephaly may be idiopathic or acquired as a result of...

Spinal Dermal Sinus

Sacral Dermal Sinus

Left, photograph of another variant of a dermal sinus. Right, close-up of the same sinus. Dermal sinuses occur mid-line anywhere along the spinal cord and warrant examination of the central nervous system. Figure 3.86. Left, photograph of another variant of a dermal sinus. Right, close-up of the same sinus. Dermal sinuses occur mid-line anywhere along the spinal cord and warrant examination of the central nervous system. Figure 3.87. Midline skin defect with an inferior deep...

Myotonic Dystrophy Newborn

Myotonic Dystrophy Facial Expression

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...

Cloacal Exstrophy

Imperforate Anus Surgery

A close-up view of the exstrophy of the cloaca. Note the ureteral openings. Figure 3.75. A close-up view of the exstrophy of the cloaca. Note the ureteral openings. Figure 3.76. Another infant with the cloacal exstrophy sequence. Associated anomalies include imperforate anus, ambiguous genitalia, cloacal exstrophy, and lumbosacral myelocele. Figure 3.77. Transillumination of the lumbosacral mass of the same infant shows the myelocystocele. Figure 3.78. Radiograph of another infant...

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...

Neural Tube Defects

Craniorachischisis

Radiograph of the same infant with inien-cephaly. Note absence of the laminal and spinal processes of the cervical, dorsal, and sometimes lumbar vertebrae. The vertebrae are reduced in number and are irregularly fused. Figure 3.31. Iniencephaly is the most severe form of a closed neural tube defect. It results in enlargement of the foramen magnum and fusion of the posterior occiput with the cervicothoracic spine. It is incompatible with survival. Figure 3.32. Radiograph of the same...

Conjunctival Lipodermoid

Conjunctival Prolapse

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...

Amniotic Band Syndrome Photos

Encephaloceles

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...

Cervical Myelomeningocele

Cervical Myelomeningocele

Lateral view of the same infant with a frontal encephalocele. Figure 3.49. A posterior encephalocele in an infant may be difficult to distinguish from a cervical meningocele. It is both a posterior encephalocele and cervical myelomeningocele when there is involvement of both the bony skull and spine. Cervical myelomeningoceles are usually not associated with other neurologic abnormalities.

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...

Holt Oram Syndrome

Holt Oram Syndrome

A more severe example of a lateral nasal cleft in an otherwise normal infant. Figure 1.51. Proboscis lateralis is a congenital abnormality in which the nose fails to develop normally. Figure 1.49. Although lateral nasal clefts, in general, are isolated findings, this infant in addition to the cleft had Holt-Oram syndrome heart disease, in this case coarcta-tion of the aorta, and absence of left radius and thumb . Figure 1.50. In this infant with bilateral clefting of the alae nasi,...

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.

Arnold Chiari Malformation

Meningocele Newborn

A lumbosacral meningocele is present in this infant. The lumbosacral area is the most common location for both meningoceles and myelomeningoceles. Infants with men-ingoceles and myelomeningoceles may have an Arnold-Chiari malformation and a high percentage develop hydrocephalus. The quality of life is influenced by the site of the neurologic lesion. Figure 3.62. This infant has a lumbar meningocele which is an example of a closed neural tube defect. The neural tube closes by...

View Pictures Of Hydrocephalus

Frontal Bossing Ultrasound

Another view of the head of the same infant showing the marked distortion of the posterior occiput and the engorged scalp veins. Figure 3.20. Another view of the head of the same infant showing the marked distortion of the posterior occiput and the engorged scalp veins. Figure 3.21. Transillumination of the skull of the same infant. The fluid-filled lobulated space-occupying cyst results in marked distortion of the cranial vault. Figure 3.21. Transillumination of the skull of the...

Lipomeningiocele

Lipomeningocele

Note the associated protrusion of a skin tag in another variant of a lipomeningocele. In infants with lipomeningoceles, skin tags may be present, there may be some skin discoloration due to the presence of the lipoma, and the lesions are usually not midline because of die presence of the lipoma. Lipomeningoceles are relatively rare defects. Figure 3.79. This lipomeningocele is a simple meningocele with infiltration of fibrous and fatty tissue continuous with a subcutaneous lipoma....

Images Of An Infants Gum Ridge

Gum Epithelial Cyst

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...

Beckwith Wiedemann

Adults With Beckwith Wiedemann Syndrome

Macroglossia in an otherwise normal infant. The most common cause of macroglos-sia is idiopathic hypertrophy of the muscles of the tongue. Figure 1.104. Macroglossia associated with Beckwith-Wiedemann syndrome. These infants have exomphalos omphalocele or large umbilical hernia , macroglossia, and gigantism EMG syndrome . Figure 1.104. Macroglossia associated with Beckwith-Wiedemann syndrome. These infants have exomphalos omphalocele or large umbilical hernia , macroglossia, and...

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...

Infant Hemifacial Microsomia

Midline Cervical Cleft

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...

Epibulbar Lipodermoids

Choristoma Dermoid

Capillary hemangiomas of the lids most frequently arise nasally from either the superior or the inferior palpebral fissure. They are poorly defined soft swellings of the eyelid with purple red-blue discoloration of the skin. They require treatment when rapid growth threatens the visual axis which can lead to irreversible deprivation amblyopia. Figure 2.29. Ankyloblepharon filiforme adnatum is shown in this figure with fusion of the upper and lower eyelids by small filiform...

Pictures Of Potter Syndrome

Microstomia

A high arched palate in an infant with a cleft of the soft palate. Figure 1.127. On the left, note the marked microstomia and on the right note the cleft palate, in an infant with a mosaic trisomy 8. Figure 1.127. On the left, note the marked microstomia and on the right note the cleft palate, in an infant with a mosaic trisomy 8. Figure 1.129. Normal ears with lack of good cartilage development may appear as large flattened ears bilaterally. These are often caused by prolonged...

Mosaic Trisomy

Goldenhar Syndrome

Another variant of the median cleft syndrome holoprosen-cephaly is cebocephaly in which there is a small nose with a single nostril above or below the eyes. Note the single orifice and aplasia of the nasal septum and philtrum. Figure 1.63. Buccal fat pads sucking cushions are pads of fat tissue between the fibers of the masseter muscle. When the infant is sucking they prevent collapsing of the cheeks during indrawing. These fat pads remain unaltered despite loss of adipose tissue...

Tongue Retention Cyst Neonatal

Newborn Oral Mucosa

Note the mucoceles on the lower lip of this premature infant birthweight 1200 g . Mucoceles are not true cysts but rather collections of mucus surrounded by connective tissue. They usually occur on the lower lip, are not common, and require no treatment. Differential diagnosis includes herpetic lesions. Figure 1.98. Congenital epulis may occur as a small or very large mass that protrudes from the mouth as a large tumor. They may be pedunculated and are of firm consistency. They...

The Central Nervous System

Setting Sun Sign

Central nervous system disorders are among the three major causes of mortality in neonates. All of the conditions that affect the infant's brain do so in part because this system is developing at a rapid rate. The neurologic examination of the newborn must thus be interpreted in the context of the child's brain maturation gestational age and level of alertness. The examination should be brief so as to avoid hypoxemia and fluctuations in arterial blood pressure. Head circumference is a useful...

Frog Leg Position Infants

Hydrocephalus Infants

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...

Temporal Bone Inferior View Dodel

Meningocele Occipital

A posterior encephalocele in an infant may be difficult to distinguish from a cervical meningocele. It is both a posterior encephalocele and cervical myelomeningocele when there is involvement of both the bony skull and spine. Cervical myelomeningoceles are usually not associated with other neurologic abnormalities. Figure 3.50. Inferior view with transillumination of the posterior structure in an occipital encephalocele. In a cranial encephalocele there is a herniation of meninges...

Infant Neck Mass

Infant Neck Mass

The subtle finding of a branchial sinus may be missed if examination of the infant is not thorough. Figure 1.164. Branchial remnants tend to occur along the course of the sternomas-toid muscle. Figure 1.164. Branchial remnants tend to occur along the course of the sternomas-toid muscle. Figure 1.165. The large cystic hygroma lymphangioma presented in this infant as a large soft fluctuating mass. These are located most commonly in the neck and consist of proliferation of lymph...

First Adult Teeth To Grow Out In Children

Frenulum Labialis

This infant with a left cleft lip and cleft palate has a neonatal tooth in the upper jaw. Figure 1.84. If a central eruption cyst or central mandibular incisor is present in the lower jaw, the diagnosis of median cleft syndrome must be excluded. This infant had median cleft syndrome. A single central maxillary incisor also may be seen in growth hormone deficiency. Figure 1.86. Frenulum frenum labialis superior. The frenulum is a continuation of the fibrous median raphe of die...

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...

Syndactyly Toes

Syndactyly Pictures

In this infant with Apert's syndrome acrocephalosyndactyly , note the high steep frontal bone, protruding forehead, flat midface, small pinched nose, and the downward slanting of the palpebral fissures. The acrocephaly is due to premature fusion of the coronal sutures, resulting in bilateral coronal craniosynostosis. This infant also had the typical finding of a high arched palate. Figure 1.26. In this infant with Apert's syndrome acrocephalosyndactyly , note the high steep frontal...

Infection Congenital intrauterine TORCH diseases Toxoplasmosis Other Rubella virus Cytomegalovirus Herpes simplex virus

Intrauterine Toxoplasmosis Infection

TORCH disease must be considered with persistent tunica vasculosa lentis in any small-for-gesta-tional-age infant. This is a grade 3 tunica vasculosa lentis in an infant widi congenital rubella who was 35 weeks gestational age and weighed 860 g at birth. Figure 2.13. TORCH disease must be considered with persistent tunica vasculosa lentis in any small-for-gesta-tional-age infant. This is a grade 3 tunica vasculosa lentis in an infant widi congenital rubella who was 35 weeks...

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...

Oil Drop Cataract

Galactosemia Oil Droplet Cataract

The cataract shown on the left is a classical oil drop cataract present at birth in an infant with galactosemia which is an autosomal recessive galactoki-nase deficiency 9p13 disorder. On the right, the same eye is shown several years later with the cataract almost completely gone after years of good dietary control. Hallermann-Streiff syndrome is an autosomal dominant syndrome which is associated with hypotrichosis, mandibular hypoplasia, beaked nose, and endocephaly. The figure...

Moebius Syndrome

Tongue Anomalies Moebius Syndrome

Macroglossia in a 2-month-old infant with Type II glycogen storage disease Pompe's disease . Macroglossia is also seen in infants with congenital hypothyroidism and hemangioma or lymphangioma of the tongue. Figure 1.107. Macroglossia associated with unilateral hypertrophy of the right side of the tongue. This may be idiopathic or due to a hemangioma or lymphangioma of the tongue. Figure 1.107. Macroglossia associated with unilateral hypertrophy of the right side of the tongue....

Coronal Closure In Newborn

Picture Infant And Craniosynostosis

Note the typical long narrow skull of a premature infant with hypsicephaly. Hypsicephaly is a term used by anthropologists for high heads that are not pathologic or due to craniosynostosis. This term is used interchangeably with that of dolicho-cephaly when associated with prematurity. Figure 1.13. Note the typical long narrow skull of a premature infant with hypsicephaly. Hypsicephaly is a term used by anthropologists for high heads that are not pathologic or due to...

Carpenter Syndrome Pictures

Crouzon Syndrome

Another example of acro-cephalosyndactyly in an infant whose mother had the same condition. Note the turribrachycephaly, high steep frontal bones, protruding forehead, flat midface, small pinched nose, and the downward slant of the palpebral fissures. Figure 1.31. Another example of acro-cephalosyndactyly in an infant whose mother had the same condition. Note the turribrachycephaly, high steep frontal bones, protruding forehead, flat midface, small pinched nose, and the downward...

Kleeblattschadel

Kleeblattsch Del

Trigonocephaly is due to premature fusion of the metopic suture and is represented clinically by a triangular-shaped head. This condition may occur in utero or in the first months of life. It may occur in otherwise normal infants, but is also seen in infants with chromosomal anomalies or the median cleft syndrome. Figure 1.20. Another example of less severe trigonocephaly. Figure 1.20. Another example of less severe trigonocephaly. Figure 1.21. Note the asynclitism of the skull...

Head and Neck

Craniotabes Radiography

Examination of the head should include visual inspection, palpation, auscultation for bruits over the temporal arteries and anterior fontanelle , assessment of the shape and size relative to the rest of the body and face, distribution and character of the hair and underlying scalp, and measurement of head circumference. The hair is inspected for color, texture, distribution and directional patterns. The shape of the cranial vault reflects interaction of internal anatomy, volume, pressure and...