A newborn with very rare von Voss-Cherstvoy syndrome: a case report

Figures & data

Figure 1 A photograph showing occipital encephalocele in the present case.

Figure 2 A photograph showing low-set ears, downward slanted eyes, short neck, wide-spaced nipples, anteverted nostrils, bilateral microtia, bilateral absence of thumbs, and shortening of both upper limbs with aplasia of both radius bone and medial deviation of the hands.

Figure 3 A radiograph of the infant suggestive of absence of right radius bone. Notes: The left upper limb was rotated and hence the absence of radius could not be seen. In addition, low-volume lung in the index case with five intercostal spaces and fracture of shaft of the femur were noted.

Table 1 The various findings seen in cases of von Voss-Cherstvoy syndrome

System involved	Malformations seen
Central nervous system	Occipital meningoencephalocele
	Agenesis of corpus callosum and lower vermis
	Hypoplasia of medulla and olives
	Hydromyelia of cervical cord
	Chiasma arhinencephaly/absence
	Hypoplasia of frontal and occipital lobes
	Gyrus dysplasia
	Agenesis of cerebellum
	Iniencephaly
Skeletal system	Preaxial polydactyly
	Radius and thumb aplasia
	Rib anomalies like cervical rib
	Club foot
	Defects in ulna
	Syndactyly
	Ectrodactyly
GI tract	Anal atresia
	Duodenal atresia
	Esophageal atresia
	Tracheoesophageal fistula
	Short bowel
	Common ileocolic mesentery
Cardiovascular and pulmonary systems	Aorta and pulmonary artery ectasia
	Dextrocardia
	Hypoplasia of lungs
	Ventricular septal defects
	Atrial septal defect
	Persistent left superior vena cava
	Hypoplastic mitral valve
	Hypoplastic left heart syndrome
	Diaphragmatic agenesis
Facial system	Hypertelorism
	Cleft lip and palate
	Microtia/malformed ears
	Microphthalmia
	Flat nasal bridge
	Upslanting palpebral fissures
	Beaked nose
	Broad nasal bridge
	Low-set ears
	Macrostomia
	Macroglossia
	Clinical anophthalmia
	Bifid tongue
	Lip frenulum
	Facial palsy
	Potter face
Urogenital system	Vaginal atresia
	Hypoplasia of uterus
	Renal, ureter, and bladder agenesis
	Penile hyperplasia
	Undescended testes
	Fused kidney
	Agenesis of adrenals
	Female pseudohermaphroditism
	Horseshoe kidneys
	Bicornuate uterus
Hematopoietic system	Thrombocytopenia
	Hemosiderosis

Abbreviation: GI, gastrointestinal.

Table 2 Comparison of various manifestations of the von Voss-Cherstvoy syndrome in the different cases reported till now

	von Voss et al^Citation1	Lubinsky et al^Citation2	Cherstvoy et al^Citation3	Bamforth and Lin^Citation4	Brunetti-Pierri et al^Citation8	Bird et al^Citation9	Urioste et al^Citation10	Managoli et al^Citation11	Antonini et al^Citation12	Present case
Meningoencephalocele	+	+	+	+	+	+	+	+	+	+
Upper limb defect	+	+	+	+	+	+	+	+	+	+
Thrombocytopenia	+	−	+	−	+	−	−	+	+	+
Congenital heart defect	−	+	−	−	−	+	−	+	−	+
Lung hypoplasia	−	+	−	−	−	+	−	+	−	+
Urinary anomalies	+	+	+	+	−	+	−	+	−	+
Genital anomalies	+	+	+	−	+	+	+	+	+	+

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